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rs267608170

From SNPedia

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


Make rs267608170(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position5982992
GenePMS2
is asnp
is mentioned by
dbSNPrs267608170
dbSNP (classic)rs267608170
ClinGenrs267608170
ebirs267608170
HLIrs267608170
Exacrs267608170
Gnomadrs267608170
Varsomers267608170
LitVarrs267608170
Maprs267608170
PheGenIrs267608170
Biobankrs267608170
1000 genomesrs267608170
hgdprs267608170
ensemblrs267608170
geneviewrs267608170
scholarrs267608170
googlers267608170
pharmgkbrs267608170
gwascentralrs267608170
openSNPrs267608170
23andMers267608170
SNPshotrs267608170
SNPdbers267608170
MSV3drs267608170
GWAS Ctlgrs267608170
Max Magnitude6
ClinVar
Risk rs267608170(A;A)
Alt rs267608170(A;A)
Reference Rs267608170(G;G)
Significance Probable-Pathogenic
Disease Lynch syndrome
Variation info
Gene PMS2
CLNDBN Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6022623C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076841.2,