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rs587779343

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779343(C;T)
Make rs587779343(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5999116
GenePMS2
is asnp
is mentioned by
dbSNPrs587779343
ebirs587779343
HLIrs587779343
Exacrs587779343
Varsomers587779343
Maprs587779343
PheGenIrs587779343
hapmaprs587779343
1000 genomesrs587779343
hgdprs587779343
ensemblrs587779343
gopubmedrs587779343
geneviewrs587779343
scholarrs587779343
googlers587779343
pharmgkbrs587779343
gwascentralrs587779343
openSNPrs587779343
23andMers587779343
23andMe allrs587779343
SNP Nexus

SNPshotrs587779343
SNPdbers587779343
MSV3drs587779343
GWAS Ctlgrs587779343
Max Magnitude0
ClinVar
Risk rs587779343(G,T;G,T)
Alt rs587779343(G,T;G,T)
Reference rs587779343(C;C)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome not provided not specified
Variation info
Gene PMS2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome not provided not specified
Reversed 1
HGVS NC_000007.13:g.6038747G>A; NC_000007.13:g.6038747G>C
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076881.2, RCV000115701.4, RCV000212848.1, RCV000160884.3, RCV000212849.1,