chr8:117172544:C>T Detail (hg38) (SLC30A8)

Information

Genome

Assembly Position
hg19 chr8:118,184,783-118,184,783 View the variant detail on this assembly version.
hg38 chr8:117,172,544-117,172,544

HGVS

Type Transcript Protein
RefSeq NM_173851.2:c.973C>T NP_776250.2:p.Arg325Trp
NM_001172814.1:c.826C>T NP_001166285.1:p.Arg276Trp
NM_001172811.1:c.826C>T NP_001166282.1:p.Arg276Trp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.404
ToMMo:0.416
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.435

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 611145 OMIM
HGNC 20303 HGNC
Ensembl ENSG00000164756 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv34460093 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2007-06-01 no assertion criteria provided Diabetes mellitus type 2, susceptibility to germline Detail
Benign 2019-10-21 criteria provided, single submitter SLC30A8-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.329 Diabetes Mellitus, Non-Insulin-Dependent In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR =... BeFree 18498634 Detail
0.393 Diabetes Mellitus, Non-Insulin-Dependent In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR =... BeFree 18498634 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR =... BeFree 18498634 Detail
0.330 Diabetes Mellitus, Non-Insulin-Dependent In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR =... BeFree 18498634 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR =... BeFree 18498634 Detail
0.322 Diabetes Mellitus, Non-Insulin-Dependent In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR =... BeFree 18498634 Detail
0.008 obesity In the present study, we examined the association between variants in fat mass- ... BeFree 25501231 Detail
0.791 obesity In the present study, we examined the association between variants in fat mass- ... BeFree 25501231 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent Using MGA, some common gene variants were found to have little (<5%) but sign... BeFree 24993573 Detail
0.026 diabetes mellitus Zinc supplementation appears to affect the early insulin response to glucose dif... BeFree 25348609 Detail
0.008 Diabetes Associations between ZnT8 antibody (ZnT8A), phenotype and the genetic variant rs... BeFree 23061550 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Confirmation of multiple risk Loci and genetic impacts by a genome-wide associat... GWASCAT 19401414 Detail
0.008 Diabetes We searched all the publications about the association between SLC30A8 and diabe... BeFree 21131091 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent We identify T2D-associated variants in an intergenic region of chromosome 11p12,... GWASCAT 17463248 Detail
0.026 diabetes mellitus We searched all the publications about the association between SLC30A8 and diabe... BeFree 21131091 Detail
0.374 Diabetes Mellitus, Non-Insulin-Dependent The R325W (rs13266634) nonsynonymous polymorphism in the islet-specific zinc tra... BeFree 18162509 Detail
0.080 Diabetes Zinc supplementation appears to affect the early insulin response to glucose dif... BeFree 25348609 Detail
0.025 Diabetes Mellitus, Insulin-Dependent To investigate the association of solute carrier family 30 member 8 (SLC30A8) rs... BeFree 21131091 Detail
0.008 Diabetes Moreover, ZnT8A-COOH-positive children who carried homozygous SLC30A8 SNP rs1326... BeFree 19590848 Detail
0.026 diabetes mellitus Association of the SLC30A8 missense polymorphism R325W with proinsulin levels at... BeFree 21779873 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Association between rs13266634 C/T polymorphisms of solute carrier family 30 mem... BeFree 21131091 Detail
0.026 diabetes mellitus Associations between ZnT8 antibody (ZnT8A), phenotype and the genetic variant rs... BeFree 23061550 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Association analysis of SLC30A8 rs13266634 and rs16889462 polymorphisms with typ... BeFree 20809084 Detail
0.295 diabetes mellitus Zinc supplementation appears to affect the early insulin response to glucose dif... BeFree 25348609 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Gene-environment interaction analysis showed a significant interaction between r... BeFree 24736664 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent SLC30A8 gene polymorphism (rs13266634 C/T) and type 2 diabetes mellitus in south... BeFree 24449369 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Genome-wide association study identifies three novel loci for type 2 diabetes. GWASCAT 23945395 Detail
0.374 Diabetes Mellitus, Non-Insulin-Dependent The C-allele of rs13266634 located in SLC30A8 (ZNT8) has been strongly associate... BeFree 20138556 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent A genome-wide association study identifies novel risk loci for type 2 diabetes. GWASCAT 17293876 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Using MGA, some common gene variants were found to have little (<5%) but sign... BeFree 24993573 Detail
<0.001 hepatitis C SLC30A8 rs13266634 polymorphism is related to a favorable cardiometabolic lipid ... BeFree 24499956 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Type 2 diabetes-associated nonsynonymous single nucleotide polymorphism in SLC30... BeFree 22447136 Detail
0.026 diabetes mellitus Moreover, ZnT8A-COOH-positive children who carried homozygous SLC30A8 SNP rs1326... BeFree 19590848 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Genome-wide association scans in type 2 diabetes (T2D) have identified a risk va... BeFree 18400535 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent The SLC30A8 rs13266634 polymorphism is among the most confirmed genetic markers ... BeFree 20138556 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent [Association analysis of SLC30A8 rs13266634 and rs16889462 polymorphisms with ty... GAD 20809084 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent [The SLC30A8 rs13266634 polymorphism is among the most confirmed genetic markers... GAD 20138556 Detail
0.008 Diabetes Association of the SLC30A8 missense polymorphism R325W with proinsulin levels at... BeFree 21779873 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent SLC30A8 (rs13266634) was the only type 2 diabetes variant associated with higher... BeFree 19741166 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent We hypothesised that the correlation between autoantibody specificity for the Zn... BeFree 20836749 Detail
0.003 HIV Infections SLC30A8 rs13266634 polymorphism is related to a favorable cardiometabolic lipid ... BeFree 24499956 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent Using MGA, some common gene variants were found to have little (&lt;5%) but sign... BeFree 24993573 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent Individuals carrying T2D risk alleles of CDKAL1 or SLC30A8 had lower fasting pla... BeFree 18210030 Detail
0.008 Diabetes Zinc supplementation appears to affect the early insulin response to glucose dif... BeFree 25348609 Detail
0.374 Diabetes Mellitus, Non-Insulin-Dependent We hypothesised that the risk allele at the type 2 diabetes-associated missense ... BeFree 21779873 Detail
0.080 Diabetes Association of the SLC30A8 missense polymorphism R325W with proinsulin levels at... BeFree 21779873 Detail
0.374 Diabetes Mellitus, Non-Insulin-Dependent Through sequencing or genotyping of ~150,000 individuals across 5 ancestry group... BeFree 24584071 Detail
0.374 Diabetes Mellitus, Non-Insulin-Dependent Individuals carrying T2D risk alleles of CDKAL1 or SLC30A8 had lower fasting pla... BeFree 18210030 Detail
<0.001 Impaired glucose tolerance To investigate the association of solute carrier family 30 member 8 (SLC30A8) rs... BeFree 21131091 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent SLC30A8 encodes a zinc transporter in the beta cell; individuals with a common m... BeFree 25348609 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Recent genome wide association studies indicated that Arg325Trp polymorphism of ... BeFree 21099260 Detail
0.374 Diabetes Mellitus, Non-Insulin-Dependent SLC30A8 encodes a zinc transporter in the beta cell; individuals with a common m... BeFree 25348609 Detail
0.025 Diabetes Mellitus, Insulin-Dependent Association between anti-ZnT8 autoantibody specificities and SLC30A8 Arg325Trp v... BeFree 18850084 Detail
0.295 diabetes mellitus Association of the SLC30A8 missense polymorphism R325W with proinsulin levels at... BeFree 21779873 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent The R325W (rs13266634) nonsynonymous polymorphism in the islet-specific zinc tra... BeFree 18162509 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Replication of genome-wide association signals in UK samples reveals risk loci f... GWASCAT 17463249 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent We hypothesised that the risk allele at the type 2 diabetes-associated missense ... BeFree 21779873 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent The variant rs13266634 in SLC30A8, encoding a β-cell-specific zinc transporter, ... BeFree 24471563 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent With collaborators (FUSION and WTCCC/UKT2D), we identified and confirmed three l... GWASCAT 17463246 Detail
<0.001 Dyslipidemias To analyze the relationship of SLC30A8 rs13266634 polymorphism with insulin resi... BeFree 24499956 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Of European non-diabetic offspring of type 2 diabetes patients, 46% are homozygo... BeFree 18324385 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.214 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent In our case-control subjects, susceptibility to type 2 diabetes was replicated i... BeFree 19033397 Detail
0.393 Diabetes Mellitus, Non-Insulin-Dependent Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were ge... BeFree 22569928 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent In our case-control subjects, susceptibility to type 2 diabetes was replicated i... BeFree 19033397 Detail
0.214 Diabetes Mellitus, Non-Insulin-Dependent Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were ge... BeFree 22569928 Detail
0.083 Diabetes Mellitus, Non-Insulin-Dependent SNPs in other genes such as rs7756992 in CDKAL1, rs10811661 in CDKN2B and rs1326... BeFree 17928989 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HH... BeFree 22923468 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent We replicated the association with type 2 diabetes for rs10811661 in the vicinit... BeFree 18437351 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were ge... BeFree 22569928 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs... BeFree 21103332 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs... BeFree 21103332 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent In our case-control subjects, susceptibility to type 2 diabetes was replicated i... BeFree 19033397 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs... BeFree 21103332 Detail
0.055 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were ge... BeFree 22569928 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent SNPs in other genes such as rs7756992 in CDKAL1, rs10811661 in CDKN2B and rs1326... BeFree 17928989 Detail
0.083 Diabetes Mellitus, Non-Insulin-Dependent We replicated the association with type 2 diabetes for rs10811661 in the vicinit... BeFree 18437351 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent SNPs in other genes such as rs7756992 in CDKAL1, rs10811661 in CDKN2B and rs1326... BeFree 17928989 Detail
0.042 Diabetes Mellitus, Non-Insulin-Dependent Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HH... BeFree 22923468 Detail
0.042 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were ge... BeFree 22569928 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were ge... BeFree 22569928 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HH... BeFree 22923468 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent In our case-control subjects, susceptibility to type 2 diabetes was replicated i... BeFree 19033397 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs... BeFree 21103332 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.121 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.009 gestational diabetes 13 SNPs (FTO rs8050136, CDKAL1 rs7754840 and rs7756992, CDKN2A/2B rs10811661, HH... BeFree 22591707 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.025 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HH... BeFree 22923468 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent In Chinese Han, we replicated the associations between 7 genetic loci and T2D, w... BeFree 20509872 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HH... BeFree 22923468 Detail
0.005 obesity Most notably, 5 SNPs from 5 genes [body mass index (BMI), hip circumference: rs3... BeFree 25060389 Detail
0.008 obesity Most notably, 5 SNPs from 5 genes [body mass index (BMI), hip circumference: rs3... BeFree 25060389 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent Five risk variants in IGF2BP2 (rs4402960, rs1470579), CDKAL1 (rs10946398), SLC30... BeFree 24736664 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent In addition, we also confirmed that three SNPs (rs1111875, rs7923837 and rs50154... BeFree 20550665 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent Five risk variants in IGF2BP2 (rs4402960, rs1470579), CDKAL1 (rs10946398), SLC30... BeFree 24736664 Detail
0.214 Diabetes Mellitus, Non-Insulin-Dependent Five risk variants in IGF2BP2 (rs4402960, rs1470579), CDKAL1 (rs10946398), SLC30... BeFree 24736664 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent A case-control study was performed in Han Chinese subjects with normal control (... BeFree 21437630 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_173851.3(SLC30A8):c.973C>T (p.Arg325Trp) AND Diabetes mellitus type 2, susceptibility to ClinVar Detail
NM_173851.3(SLC30A8):c.973C>T (p.Arg325Trp) AND SLC30A8-related disorder ClinVar Detail
In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR = 0.73, P = 0.004), A... DisGeNET Detail
In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR = 0.73, P = 0.004), A... DisGeNET Detail
In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR = 0.73, P = 0.004), A... DisGeNET Detail
In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR = 0.73, P = 0.004), A... DisGeNET Detail
In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR = 0.73, P = 0.004), A... DisGeNET Detail
In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR = 0.73, P = 0.004), A... DisGeNET Detail
In the present study, we examined the association between variants in fat mass- and obesity-associat... DisGeNET Detail
In the present study, we examined the association between variants in fat mass- and obesity-associat... DisGeNET Detail
Using MGA, some common gene variants were found to have little (&lt;5%) but significant impact on th... DisGeNET Detail
Zinc supplementation appears to affect the early insulin response to glucose differentially by rs132... DisGeNET Detail
Associations between ZnT8 antibody (ZnT8A), phenotype and the genetic variant rs13266634 in the SLC3... DisGeNET Detail
Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 ... DisGeNET Detail
We searched all the publications about the association between SLC30A8 and diabetes from PubMed, and... DisGeNET Detail
We identify T2D-associated variants in an intergenic region of chromosome 11p12, contribute to the i... DisGeNET Detail
We searched all the publications about the association between SLC30A8 and diabetes from PubMed, and... DisGeNET Detail
The R325W (rs13266634) nonsynonymous polymorphism in the islet-specific zinc transporter protein gen... DisGeNET Detail
Zinc supplementation appears to affect the early insulin response to glucose differentially by rs132... DisGeNET Detail
To investigate the association of solute carrier family 30 member 8 (SLC30A8) rs13266634 C/T polymor... DisGeNET Detail
Moreover, ZnT8A-COOH-positive children who carried homozygous SLC30A8 SNP rs13266634 genotypes progr... DisGeNET Detail
Association of the SLC30A8 missense polymorphism R325W with proinsulin levels at baseline and after ... DisGeNET Detail
Association between rs13266634 C/T polymorphisms of solute carrier family 30 member 8 (SLC30A8) and ... DisGeNET Detail
Associations between ZnT8 antibody (ZnT8A), phenotype and the genetic variant rs13266634 in the SLC3... DisGeNET Detail
Association analysis of SLC30A8 rs13266634 and rs16889462 polymorphisms with type 2 diabetes mellitu... DisGeNET Detail
Zinc supplementation appears to affect the early insulin response to glucose differentially by rs132... DisGeNET Detail
Gene-environment interaction analysis showed a significant interaction between rs13266634 in SLC30A8... DisGeNET Detail
SLC30A8 gene polymorphism (rs13266634 C/T) and type 2 diabetes mellitus in south Iranian population. DisGeNET Detail
Genome-wide association study identifies three novel loci for type 2 diabetes. DisGeNET Detail
The C-allele of rs13266634 located in SLC30A8 (ZNT8) has been strongly associated with decreased ins... DisGeNET Detail
A genome-wide association study identifies novel risk loci for type 2 diabetes. DisGeNET Detail
Using MGA, some common gene variants were found to have little (&lt;5%) but significant impact on th... DisGeNET Detail
SLC30A8 rs13266634 polymorphism is related to a favorable cardiometabolic lipid profile in HIV/hepat... DisGeNET Detail
Type 2 diabetes-associated nonsynonymous single nucleotide polymorphism in SLC30A8 (the gene of ZnT8... DisGeNET Detail
Moreover, ZnT8A-COOH-positive children who carried homozygous SLC30A8 SNP rs13266634 genotypes progr... DisGeNET Detail
Genome-wide association scans in type 2 diabetes (T2D) have identified a risk variant, rs13266634 (A... DisGeNET Detail
The SLC30A8 rs13266634 polymorphism is among the most confirmed genetic markers of T2D in Europeans ... DisGeNET Detail
[Association analysis of SLC30A8 rs13266634 and rs16889462 polymorphisms with type 2 diabetes mellit... DisGeNET Detail
[The SLC30A8 rs13266634 polymorphism is among the most confirmed genetic markers of T2D in Europeans... DisGeNET Detail
Association of the SLC30A8 missense polymorphism R325W with proinsulin levels at baseline and after ... DisGeNET Detail
SLC30A8 (rs13266634) was the only type 2 diabetes variant associated with higher fasting glucose (0.... DisGeNET Detail
We hypothesised that the correlation between autoantibody specificity for the ZnT8 Arg325Trp isoform... DisGeNET Detail
SLC30A8 rs13266634 polymorphism is related to a favorable cardiometabolic lipid profile in HIV/hepat... DisGeNET Detail
Using MGA, some common gene variants were found to have little (&lt;5%) but significant impact on th... DisGeNET Detail
Individuals carrying T2D risk alleles of CDKAL1 or SLC30A8 had lower fasting plasma insulin level (r... DisGeNET Detail
Zinc supplementation appears to affect the early insulin response to glucose differentially by rs132... DisGeNET Detail
We hypothesised that the risk allele at the type 2 diabetes-associated missense polymorphism rs13266... DisGeNET Detail
Association of the SLC30A8 missense polymorphism R325W with proinsulin levels at baseline and after ... DisGeNET Detail
Through sequencing or genotyping of ~150,000 individuals across 5 ancestry groups, we identified 12 ... DisGeNET Detail
Individuals carrying T2D risk alleles of CDKAL1 or SLC30A8 had lower fasting plasma insulin level (r... DisGeNET Detail
To investigate the association of solute carrier family 30 member 8 (SLC30A8) rs13266634 C/T polymor... DisGeNET Detail
SLC30A8 encodes a zinc transporter in the beta cell; individuals with a common missense variant (rs1... DisGeNET Detail
Recent genome wide association studies indicated that Arg325Trp polymorphism of Slc30a8 encoding ZnT... DisGeNET Detail
SLC30A8 encodes a zinc transporter in the beta cell; individuals with a common missense variant (rs1... DisGeNET Detail
Association between anti-ZnT8 autoantibody specificities and SLC30A8 Arg325Trp variant in Japanese p... DisGeNET Detail
Association of the SLC30A8 missense polymorphism R325W with proinsulin levels at baseline and after ... DisGeNET Detail
The R325W (rs13266634) nonsynonymous polymorphism in the islet-specific zinc transporter protein gen... DisGeNET Detail
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. DisGeNET Detail
We hypothesised that the risk allele at the type 2 diabetes-associated missense polymorphism rs13266... DisGeNET Detail
The variant rs13266634 in SLC30A8, encoding a β-cell-specific zinc transporter, is associated with t... DisGeNET Detail
With collaborators (FUSION and WTCCC/UKT2D), we identified and confirmed three loci associated with ... DisGeNET Detail
To analyze the relationship of SLC30A8 rs13266634 polymorphism with insulin resistance and dyslipide... DisGeNET Detail
Of European non-diabetic offspring of type 2 diabetes patients, 46% are homozygous carriers of the A... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
In our case-control subjects, susceptibility to type 2 diabetes was replicated in TCF7L2 (rs12255372... DisGeNET Detail
Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were genotyped by means of ... DisGeNET Detail
In our case-control subjects, susceptibility to type 2 diabetes was replicated in TCF7L2 (rs12255372... DisGeNET Detail
Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were genotyped by means of ... DisGeNET Detail
SNPs in other genes such as rs7756992 in CDKAL1, rs10811661 in CDKN2B and rs13266634 in SLC30A8 show... DisGeNET Detail
Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HHEX), rs10811661 (CDK... DisGeNET Detail
We replicated the association with type 2 diabetes for rs10811661 in the vicinity of CDKN2B (OR 1.20... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were genotyped by means of ... DisGeNET Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs10811661) and KCNQ1 ... DisGeNET Detail
We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs10811661) and KCNQ1 ... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
In our case-control subjects, susceptibility to type 2 diabetes was replicated in TCF7L2 (rs12255372... DisGeNET Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs10811661) and KCNQ1 ... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were genotyped by means of ... DisGeNET Detail
SNPs in other genes such as rs7756992 in CDKAL1, rs10811661 in CDKN2B and rs13266634 in SLC30A8 show... DisGeNET Detail
We replicated the association with type 2 diabetes for rs10811661 in the vicinity of CDKN2B (OR 1.20... DisGeNET Detail
SNPs in other genes such as rs7756992 in CDKAL1, rs10811661 in CDKN2B and rs13266634 in SLC30A8 show... DisGeNET Detail
Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HHEX), rs10811661 (CDK... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were genotyped by means of ... DisGeNET Detail
Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were genotyped by means of ... DisGeNET Detail
Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HHEX), rs10811661 (CDK... DisGeNET Detail
In our case-control subjects, susceptibility to type 2 diabetes was replicated in TCF7L2 (rs12255372... DisGeNET Detail
We found that CDKAL1 (rs7756992), SLC30A8 (rs13266634, rs2466293), CDKN2A/2B (rs10811661) and KCNQ1 ... DisGeNET Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
13 SNPs (FTO rs8050136, CDKAL1 rs7754840 and rs7756992, CDKN2A/2B rs10811661, HHEX rs1111875, IGF2BP... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HHEX), rs10811661 (CDK... DisGeNET Detail
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-spec... DisGeNET Detail
Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HHEX), rs10811661 (CDK... DisGeNET Detail
Most notably, 5 SNPs from 5 genes [body mass index (BMI), hip circumference: rs3751812/FTO; fasting ... DisGeNET Detail
Most notably, 5 SNPs from 5 genes [body mass index (BMI), hip circumference: rs3751812/FTO; fasting ... DisGeNET Detail
Five risk variants in IGF2BP2 (rs4402960, rs1470579), CDKAL1 (rs10946398), SLC30A8 (rs13266634), and... DisGeNET Detail
In addition, we also confirmed that three SNPs (rs1111875, rs7923837 and rs5015480) in HHEX , one SN... DisGeNET Detail
Five risk variants in IGF2BP2 (rs4402960, rs1470579), CDKAL1 (rs10946398), SLC30A8 (rs13266634), and... DisGeNET Detail
Five risk variants in IGF2BP2 (rs4402960, rs1470579), CDKAL1 (rs10946398), SLC30A8 (rs13266634), and... DisGeNET Detail
A case-control study was performed in Han Chinese subjects with normal control (n=152) and T2DM (n=2... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs13266634 dbSNP
Genome
hg38
Position
chr8:117,172,544-117,172,544
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1206
Mean of sample read depth (HGVD)
165.03
Standard deviation of sample read depth (HGVD)
76.80
Number of reference allele (HGVD)
1437
Number of alternative allele (HGVD)
975
Allele Frequency (HGVD)
0.40422885572139305
Gene Symbol (HGVD)
SLC30A8
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs13266634
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4158
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6969
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8632
East Asian Allele Counts (ExAC)
3753
East Asian Heterozygous Counts (ExAC)
2153
East Asian Homozygous Counts (ExAC)
800
East Asian Allele Frequency (ExAC)
0.4347775718257646
Chromosome Counts in All Race (ExAC)
121248
Allele Counts in All Race (ExAC)
34542
Heterozygous Counts in All Race (ExAC)
23804
Homozygous Counts in All Race (ExAC)
5369
Allele Frequency in All Race (ExAC)
0.2848871733966746
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