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rs587779347

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587779347(A;G)
Make rs587779347(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5989957
GenePMS2
is asnp
is mentioned by
dbSNPrs587779347
ebirs587779347
HLIrs587779347
Exacrs587779347
Varsomers587779347
Maprs587779347
PheGenIrs587779347
hapmaprs587779347
1000 genomesrs587779347
hgdprs587779347
ensemblrs587779347
gopubmedrs587779347
geneviewrs587779347
scholarrs587779347
googlers587779347
pharmgkbrs587779347
gwascentralrs587779347
openSNPrs587779347
23andMers587779347
23andMe allrs587779347
SNP Nexus

SNPshotrs587779347
SNPdbers587779347
MSV3drs587779347
GWAS Ctlgrs587779347
Max Magnitude0
ClinVar
Risk rs587779347(G;G)
Alt rs587779347(G;G)
Reference rs587779347(A;A)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene PMS2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000007.13:g.6029588T>C
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076905.2, RCV000132347.2,