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rs267608158

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 6 Lynch syndrome, pathogenic mutation
(T;T) 0 common in clinvar


Make rs267608158(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position5989798
GenePMS2
is asnp
is mentioned by
dbSNPrs267608158
dbSNP (classic)rs267608158
ClinGenrs267608158
ebirs267608158
HLIrs267608158
Exacrs267608158
Gnomadrs267608158
Varsomers267608158
LitVarrs267608158
Maprs267608158
PheGenIrs267608158
Biobankrs267608158
1000 genomesrs267608158
hgdprs267608158
ensemblrs267608158
geneviewrs267608158
scholarrs267608158
googlers267608158
pharmgkbrs267608158
gwascentralrs267608158
openSNPrs267608158
23andMers267608158
SNPshotrs267608158
SNPdbers267608158
MSV3drs267608158
GWAS Ctlgrs267608158
Max Magnitude6
ClinVar
Risk rs267608158(A;A)
Alt rs267608158(A;A)
Reference Rs267608158(T;T)
Significance Pathogenic
Disease Hereditary nonpolyposis colorectal cancer type 4 Lynch syndrome
Variation info
Gene PMS2
CLNDBN Hereditary nonpolyposis colorectal cancer type 4 Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6029429A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009822.3, RCV000076796.2,