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rs587778617

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587778617(C;T)
Make rs587778617(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5987504
GenePMS2
is asnp
is mentioned by
dbSNPrs587778617
ebirs587778617
HLIrs587778617
Exacrs587778617
Varsomers587778617
Maprs587778617
PheGenIrs587778617
hapmaprs587778617
1000 genomesrs587778617
hgdprs587778617
ensemblrs587778617
gopubmedrs587778617
geneviewrs587778617
scholarrs587778617
googlers587778617
pharmgkbrs587778617
gwascentralrs587778617
openSNPrs587778617
23andMers587778617
23andMe allrs587778617
SNP Nexus

SNPshotrs587778617
SNPdbers587778617
MSV3drs587778617
GWAS Ctlgrs587778617
Max Magnitude0
ClinVar
Risk rs587778617(T;T)
Alt rs587778617(T;T)
Reference rs587778617(C;C)
Significance Pathogenic
Disease Lynch syndrome not specified not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene PMS2
CLNDBN Lynch syndrome not specified not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000007.13:g.6027135G>A
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076804.3, RCV000121843.1, RCV000219846.1, RCV000223405.1,