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rs587780062

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587780062(C;T)
Make rs587780062(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5995614
GenePMS2
is asnp
is mentioned by
dbSNPrs587780062
ebirs587780062
HLIrs587780062
Exacrs587780062
Varsomers587780062
Maprs587780062
PheGenIrs587780062
hapmaprs587780062
1000 genomesrs587780062
hgdprs587780062
ensemblrs587780062
gopubmedrs587780062
geneviewrs587780062
scholarrs587780062
googlers587780062
pharmgkbrs587780062
gwascentralrs587780062
openSNPrs587780062
23andMers587780062
23andMe allrs587780062
SNP Nexus

SNPshotrs587780062
SNPdbers587780062
MSV3drs587780062
GWAS Ctlgrs587780062
Max Magnitude0
ClinVar
Risk rs587780062(G,T;G,T)
Alt rs587780062(G,T;G,T)
Reference rs587780062(C;C)
Significance Pathogenic
Disease not provided Tumor susceptibility linked to germline BAP1 mutations Hereditary cancer-predisposing syndrome
Variation info
Gene PMS2
CLNDBN not provided Tumor susceptibility linked to germline BAP1 mutations Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000007.13:g.6035245G>A; NC_000007.13:g.6035245G>C
CLNSRC
CLNACC RCV000115704.3, RCV000216292.1, RCV000130089.2,