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rs267608019

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 Lynch syndrome, pathogenic mutation
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation


Make rs267608019(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position47480872
GeneMSH2
is asnp
is mentioned by
dbSNPrs267608019
dbSNP (classic)rs267608019
ClinGenrs267608019
ebirs267608019
HLIrs267608019
Exacrs267608019
Gnomadrs267608019
Varsomers267608019
LitVarrs267608019
Maprs267608019
PheGenIrs267608019
Biobankrs267608019
1000 genomesrs267608019
hgdprs267608019
ensemblrs267608019
geneviewrs267608019
scholarrs267608019
googlers267608019
pharmgkbrs267608019
gwascentralrs267608019
openSNPrs267608019
23andMers267608019
SNPshotrs267608019
SNPdbers267608019
MSV3drs267608019
GWAS Ctlgrs267608019
Max Magnitude6
ClinVar
Risk rs267608019(A;A) rs267608019(T;T)
Alt rs267608019(A;A) rs267608019(T;T)
Reference Rs267608019(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.47708011G>A; NC_000002.11:g.47708011G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076518.2, RCV000491073.1, RCV000076519.2,