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rs876659480

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs876659480(C;T)
Make rs876659480(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position5982843
GenePMS2
is asnp
is mentioned by
dbSNPrs876659480
ebirs876659480
HLIrs876659480
Exacrs876659480
Varsomers876659480
Maprs876659480
PheGenIrs876659480
hapmaprs876659480
1000 genomesrs876659480
hgdprs876659480
ensemblrs876659480
gopubmedrs876659480
geneviewrs876659480
scholarrs876659480
googlers876659480
pharmgkbrs876659480
gwascentralrs876659480
openSNPrs876659480
23andMers876659480
23andMe allrs876659480
SNP Nexus

SNPshotrs876659480
SNPdbers876659480
MSV3drs876659480
GWAS Ctlgrs876659480
Max Magnitude0
ClinVar
Risk rs876659480(T;T)
Alt rs876659480(T;T)
Reference rs876659480(C;C)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene PMS2
CLNDBN Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000007.13:g.6022474G>A
CLNSRC
CLNACC RCV000219006.1,