chr8:117172786:G>A Detail (hg38) (SLC30A8)

Information

Genome

Assembly Position
hg19 chr8:118,185,025-118,185,025 View the variant detail on this assembly version.
hg38 chr8:117,172,786-117,172,786

HGVS

Type Transcript Protein
RefSeq NM_001172813.1:c.*105G>A
NM_001172815.2:c.*105G>A
NM_173851.2:c.*105G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.434
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 tgv34460140 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.340 Diabetes Mellitus, Non-Insulin-Dependent Twelve type 2 diabetes susceptibility loci identified through large-scale associ... GWASCAT 20581827 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAM... GWASCAT 22693455 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Genome-wide trans-ancestry meta-analysis provides insight into the genetic archi... GWASCAT 24509480 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802... BeFree 18477659 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802... BeFree 18477659 Detail
0.214 Diabetes Mellitus, Non-Insulin-Dependent Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802... BeFree 18477659 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802... BeFree 18477659 Detail
0.083 Diabetes Mellitus, Non-Insulin-Dependent Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802... BeFree 18477659 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent In addition, we also confirmed that three SNPs (rs1111875, rs7923837 and rs50154... BeFree 20550665 Detail
Annotation

Annotations

DescrptionSourceLinks
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. DisGeNET Detail
Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment fo... DisGeNET Detail
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 di... DisGeNET Detail
Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802177 [odds ratio (OR)... DisGeNET Detail
Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802177 [odds ratio (OR)... DisGeNET Detail
Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802177 [odds ratio (OR)... DisGeNET Detail
Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802177 [odds ratio (OR)... DisGeNET Detail
Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802177 [odds ratio (OR)... DisGeNET Detail
In addition, we also confirmed that three SNPs (rs1111875, rs7923837 and rs5015480) in HHEX , one SN... 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
rs3802177 dbSNP
Genome
hg38
Position
chr8:117,172,786-117,172,786
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs3802177
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4341
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7275
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser