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rs267608017

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 6 Lynch syndrome, pathogenic mutation
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome
Make rs267608017(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47480876
GeneMSH2
is asnp
is mentioned by
dbSNPrs267608017
dbSNP (classic)rs267608017
ClinGenrs267608017
ebirs267608017
HLIrs267608017
Exacrs267608017
Gnomadrs267608017
Varsomers267608017
LitVarrs267608017
Maprs267608017
PheGenIrs267608017
Biobankrs267608017
1000 genomesrs267608017
hgdprs267608017
ensemblrs267608017
geneviewrs267608017
scholarrs267608017
googlers267608017
pharmgkbrs267608017
gwascentralrs267608017
openSNPrs267608017
23andMers267608017
SNPshotrs267608017
SNPdbers267608017
MSV3drs267608017
GWAS Ctlgrs267608017
Max Magnitude6
ClinVar
Risk rs267608017(C;C) rs267608017(T;T)
Alt rs267608017(C;C) rs267608017(T;T)
Reference Rs267608017(G;G)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47708015G>C; NC_000002.11:g.47708015G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076521.2, RCV000491990.1, RCV000076522.2,