chr7:28180556:T>C Detail (hg19) (JAZF1)

Information

Genome

Assembly Position
hg19 chr7:28,180,556-28,180,556
hg38 chr7:28,140,937-28,140,937 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_175061.3:c.115+39526A>G
Ensemble ENST00000283928.10:c.115+39526A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.199
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 606246 OMIM
HGNC 28917 HGNC
Ensembl ENSG00000153814 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv28736720 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
0.466 Diabetes Mellitus, Non-Insulin-Dependent Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
0.057 Diabetes Mellitus, Non-Insulin-Dependent Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
<0.001 colorectal cancer Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
0.005 colorectal carcinoma Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
<0.001 colorectal carcinoma Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
<0.001 colorectal carcinoma Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
<0.001 colorectal cancer Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
<0.001 colorectal cancer Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
0.005 colorectal cancer Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
0.314 Diabetes Mellitus, Non-Insulin-Dependent Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
0.032 Diabetes Mellitus, Non-Insulin-Dependent Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
<0.001 colorectal carcinoma Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
0.314 Diabetes Mellitus, Non-Insulin-Dependent Meta-analysis of genome-wide association data and large-scale replication identi... GWASCAT 18372903 Detail
<0.001 Diabetes Carriers of the diabetes-associated T-allele of JAZF1 rs864745 had an allele-dep... BeFree 18567820 Detail
<0.001 Diabetes The major T-allele of the intronic JAZF1 rs864745 conferring increased diabetes ... BeFree 19789630 Detail
0.006 diabetes mellitus Carriers of the diabetes-associated T-allele of JAZF1 rs864745 had an allele-dep... BeFree 18567820 Detail
<0.001 Diabetes Carriers of the diabetes-associated T-allele of JAZF1 rs864745 had an allele-dep... BeFree 18567820 Detail
0.006 diabetes mellitus The major T-allele of the intronic JAZF1 rs864745 conferring increased diabetes ... BeFree 19789630 Detail
0.006 diabetes mellitus The diabetes risk variant rs864745 within JAZF1 was associated with arterioloscl... BeFree 24135527 Detail
0.314 Diabetes Mellitus, Non-Insulin-Dependent A meta-analysis for the three case-control studies identified a nominal associat... BeFree 19455301 Detail
0.295 diabetes mellitus The major T-allele of the intronic JAZF1 rs864745 conferring increased diabetes ... BeFree 19789630 Detail
0.120 Crohn Disease Host-microbe interactions have shaped the genetic architecture of inflammatory b... GWASCAT 23128233 Detail
<0.001 Diabetes The diabetes risk variant rs864745 within JAZF1 was associated with arterioloscl... BeFree 24135527 Detail
<0.001 diabetes mellitus Carriers of the diabetes-associated T-allele of JAZF1 rs864745 had an allele-dep... BeFree 18567820 Detail
0.080 Diabetes The major T-allele of the intronic JAZF1 rs864745 conferring increased diabetes ... BeFree 19789630 Detail
0.083 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.393 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.214 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.314 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.290 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.296 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.181 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.057 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.017 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.032 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.176 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.293 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.006 diabetes mellitus We evaluated the impact on diabetes-related intermediary traits of common novel ... BeFree 18567820 Detail
0.005 diabetes mellitus We evaluated the impact on diabetes-related intermediary traits of common novel ... BeFree 18567820 Detail
<0.001 Diabetes We evaluated the impact on diabetes-related intermediary traits of common novel ... BeFree 18567820 Detail
0.293 Diabetes Mellitus, Non-Insulin-Dependent We evaluated the impact on diabetes-related intermediary traits of common novel ... BeFree 18567820 Detail
0.001 Diabetes We evaluated the impact on diabetes-related intermediary traits of common novel ... BeFree 18567820 Detail
<0.001 Diabetes We evaluated the impact on diabetes-related intermediary traits of common novel ... BeFree 18567820 Detail
0.008 diabetes mellitus We evaluated the impact on diabetes-related intermediary traits of common novel ... BeFree 18567820 Detail
Annotation

Annotations

DescrptionSourceLinks
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Meta-analysis of genome-wide association data and large-scale replication identifies additional susc... DisGeNET Detail
Carriers of the diabetes-associated T-allele of JAZF1 rs864745 had an allele-dependent 3% decrease i... DisGeNET Detail
The major T-allele of the intronic JAZF1 rs864745 conferring increased diabetes risk was associated ... DisGeNET Detail
Carriers of the diabetes-associated T-allele of JAZF1 rs864745 had an allele-dependent 3% decrease i... DisGeNET Detail
Carriers of the diabetes-associated T-allele of JAZF1 rs864745 had an allele-dependent 3% decrease i... DisGeNET Detail
The major T-allele of the intronic JAZF1 rs864745 conferring increased diabetes risk was associated ... DisGeNET Detail
The diabetes risk variant rs864745 within JAZF1 was associated with arteriolosclerosis (OR = 0.80, p... DisGeNET Detail
A meta-analysis for the three case-control studies identified a nominal association of rs864745 in J... DisGeNET Detail
The major T-allele of the intronic JAZF1 rs864745 conferring increased diabetes risk was associated ... DisGeNET Detail
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. DisGeNET Detail
The diabetes risk variant rs864745 within JAZF1 was associated with arteriolosclerosis (OR = 0.80, p... DisGeNET Detail
Carriers of the diabetes-associated T-allele of JAZF1 rs864745 had an allele-dependent 3% decrease i... DisGeNET Detail
The major T-allele of the intronic JAZF1 rs864745 conferring increased diabetes risk was associated ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... DisGeNET Detail
We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... DisGeNET Detail
We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... DisGeNET Detail
We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... DisGeNET Detail
We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... DisGeNET Detail
We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... DisGeNET Detail
We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs864745 dbSNP
Genome
hg19
Position
chr7:28,180,556-28,180,556
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs864745
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1987
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3329
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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