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rs587778617

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 Lynch syndrome
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs587778617(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5987504
GenePMS2
is asnp
is mentioned by
dbSNPrs587778617
dbSNP (classic)rs587778617
ClinGenrs587778617
ebirs587778617
HLIrs587778617
Exacrs587778617
Gnomadrs587778617
Varsomers587778617
LitVarrs587778617
Maprs587778617
PheGenIrs587778617
Biobankrs587778617
1000 genomesrs587778617
hgdprs587778617
ensemblrs587778617
geneviewrs587778617
scholarrs587778617
googlers587778617
pharmgkbrs587778617
gwascentralrs587778617
openSNPrs587778617
23andMers587778617
SNPshotrs587778617
SNPdbers587778617
MSV3drs587778617
GWAS Ctlgrs587778617
Max Magnitude6
ClinVar
Risk rs587778617(T;T)
Alt rs587778617(T;T)
Reference Rs587778617(C;C)
Significance Pathogenic
Disease Lynch syndrome not specified not provided Hereditary cancer-predisposing syndrome
Variation info
Gene PMS2
CLNDBN Lynch syndrome not specified not provided Hereditary cancer-predisposing syndrome
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,