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rs587779340

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587779340(A;G)
Make rs587779340(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position6003794
GenePMS2
is asnp
is mentioned by
dbSNPrs587779340
ebirs587779340
HLIrs587779340
Exacrs587779340
Varsomers587779340
Maprs587779340
PheGenIrs587779340
hapmaprs587779340
1000 genomesrs587779340
hgdprs587779340
ensemblrs587779340
gopubmedrs587779340
geneviewrs587779340
scholarrs587779340
googlers587779340
pharmgkbrs587779340
gwascentralrs587779340
openSNPrs587779340
23andMers587779340
23andMe allrs587779340
SNP Nexus

SNPshotrs587779340
SNPdbers587779340
MSV3drs587779340
GWAS Ctlgrs587779340
Max Magnitude0
ClinVar
Risk rs587779340(C,G,T;C,G,T)
Alt rs587779340(C,G,T;C,G,T)
Reference rs587779340(A;A)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Lynch syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene PMS2
CLNDBN Hereditary cancer-predisposing syndrome Lynch syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000007.13:g.6043425T>A; NC_000007.13:g.6043425T>C; NC_000007.13:g.6043425T>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000162757.1, RCV000205731.3, RCV000216802.1, RCV000076861.2, RCV000219075.1,