chr12:21457434:T>G Detail (hg19) (SLCO1A2)

Information

Genome

Assembly Position
hg19 chr12:21,457,434-21,457,434
hg38 chr12:21,304,500-21,304,500 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_021094.3:c.516A>C NP_066580.1:p.Glu172Asp
NM_134431.3:c.516A>C NP_602307.1:p.Glu172Asp
Ensemble ENST00000683939.1:c.516A>C ENST00000683939.1:p.Glu172Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 602883 OMIM
HGNC 10956 HGNC
Ensembl ENSG00000084453 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant 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
0.001 Diabetes Mellitus, Insulin-Dependent We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
<0.001 ulcerative colitis We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
0.123 progressive supranuclear palsy [Identification of common variants influencing risk of the tauopathy progressive... GAD 21685912 Detail
0.006 Diabetes Mellitus, Insulin-Dependent We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
<0.001 Diabetes Mellitus, Insulin-Dependent We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
0.123 progressive supranuclear palsy Identification of common variants influencing risk of the tauopathy progressive ... GWASCAT 21685912 Detail
0.121 ulcerative colitis We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
<0.001 ulcerative colitis We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
0.123 progressive supranuclear palsy We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
<0.001 progressive supranuclear palsy We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
Annotation

Annotations

DescrptionSourceLinks
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
[Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.... DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... 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
-
Genome
hg19
Position
chr12:21,457,434-21,457,434
Variant Type
snv
Reference Allele
T
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8632
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121290
Allele Counts in All Race (ExAC)
5520
Heterozygous Counts in All Race (ExAC)
5164
Homozygous Counts in All Race (ExAC)
178
Allele Frequency in All Race (ExAC)
0.045510759337125894
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