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rs876658964

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs876658964(-;-)
Make rs876658964(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position5995586
GenePMS2
is asnp
is mentioned by
dbSNPrs876658964
ebirs876658964
HLIrs876658964
Exacrs876658964
Varsomers876658964
Maprs876658964
PheGenIrs876658964
hapmaprs876658964
1000 genomesrs876658964
hgdprs876658964
ensemblrs876658964
gopubmedrs876658964
geneviewrs876658964
scholarrs876658964
googlers876658964
pharmgkbrs876658964
gwascentralrs876658964
openSNPrs876658964
23andMers876658964
23andMe allrs876658964
SNP Nexus

SNPshotrs876658964
SNPdbers876658964
MSV3drs876658964
GWAS Ctlgrs876658964
Max Magnitude0
ClinVar
Risk rs876658964(;)
Alt rs876658964(;)
Reference rs876658964(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.6035217delG
CLNSRC
CLNACC RCV000215549.1,