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rs3131713

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs3131713(A;A)
Make rs3131713(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position20645555
GenePINK1, PINK1-AS
is asnp
is mentioned by
dbSNPrs3131713
ClinGenrs3131713
ebirs3131713
HLIrs3131713
Exacrs3131713
Varsomers3131713
Maprs3131713
PheGenIrs3131713
hapmaprs3131713
1000 genomesrs3131713
hgdprs3131713
ensemblrs3131713
gopubmedrs3131713
geneviewrs3131713
scholarrs3131713
googlers3131713
pharmgkbrs3131713
gwascentralrs3131713
openSNPrs3131713
23andMers3131713
23andMe allrs3131713
SNP Nexus

SNPshotrs3131713
SNPdbers3131713
MSV3drs3131713
GWAS Ctlgrs3131713
GMAF0.1745
Max Magnitude0
? (A;A) (A;G) (G;G) 28
This SNP may be related to obesity and diabetes.

Genomic variants at the PINK1 locus are associated with transcript abundance and plasma nonesterified fatty acid concentrations in European whites. Near perfect linkage disequilibrium with rs622525. G allele is a proxy for rs622525(T) which is associated with higher PINK1 transcript levels.[PMID 18495756]


ClinVar
Risk rs3131713(A;A)
Alt rs3131713(A;A)
Reference Rs3131713(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene PINK1-AS PINK1
CLNDBN not specified
Reversed 0
HGVS NC_000001.10:g.20972048G>A
CLNSRC
CLNACC RCV000244222.1,