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rs267608153

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;C) 6 Lynch syndrome
(C;T) 6 Lynch syndrome
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs267608153(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position5995534
GenePMS2
is asnp
is mentioned by
dbSNPrs267608153
dbSNP (classic)rs267608153
ClinGenrs267608153
ebirs267608153
HLIrs267608153
Exacrs267608153
Gnomadrs267608153
Varsomers267608153
LitVarrs267608153
Maprs267608153
PheGenIrs267608153
Biobankrs267608153
1000 genomesrs267608153
hgdprs267608153
ensemblrs267608153
geneviewrs267608153
scholarrs267608153
googlers267608153
pharmgkbrs267608153
gwascentralrs267608153
openSNPrs267608153
23andMers267608153
SNPshotrs267608153
SNPdbers267608153
MSV3drs267608153
GWAS Ctlgrs267608153
Max Magnitude6
ClinVar
Risk rs267608153(A;A) rs267608153(T;T)
Alt rs267608153(A;A) rs267608153(T;T)
Reference Rs267608153(G;G)
Significance Probable-Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene PMS2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000007.13:g.6035165C>A; NC_000007.13:g.6035165C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076896.3, RCV000215563.1, RCV000255696.1, RCV000228489.1,