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rs267608169

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 Lynch syndrome, pathogenic mutation
Make rs267608169(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position5987027
GenePMS2
is asnp
is mentioned by
dbSNPrs267608169
dbSNP (classic)rs267608169
ClinGenrs267608169
ebirs267608169
HLIrs267608169
Exacrs267608169
Gnomadrs267608169
Varsomers267608169
LitVarrs267608169
Maprs267608169
PheGenIrs267608169
Biobankrs267608169
1000 genomesrs267608169
hgdprs267608169
ensemblrs267608169
geneviewrs267608169
scholarrs267608169
googlers267608169
pharmgkbrs267608169
gwascentralrs267608169
openSNPrs267608169
23andMers267608169
SNPshotrs267608169
SNPdbers267608169
MSV3drs267608169
GWAS Ctlgrs267608169
Max Magnitude6
ClinVar
Risk rs267608169(T;T)
Alt rs267608169(T;T)
Reference Rs267608169(A;A)
Significance 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.6026658T>A
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076824.2, RCV000129628.2, RCV000260402.1,