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rs267607925

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 Likely miscall if data is from Ancestry; otherwise, Lynch syndrome, pathogenic mutation
(G;G) 0 common in clinvar


Make rs267607925(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position47410093
GeneMSH2
is asnp
is mentioned by
dbSNPrs267607925
dbSNP (classic)rs267607925
ClinGenrs267607925
ebirs267607925
HLIrs267607925
Exacrs267607925
Gnomadrs267607925
Varsomers267607925
LitVarrs267607925
Maprs267607925
PheGenIrs267607925
Biobankrs267607925
1000 genomesrs267607925
hgdprs267607925
ensemblrs267607925
geneviewrs267607925
scholarrs267607925
googlers267607925
pharmgkbrs267607925
gwascentralrs267607925
openSNPrs267607925
23andMers267607925
SNPshotrs267607925
SNPdbers267607925
MSV3drs267607925
GWAS Ctlgrs267607925
Max Magnitude6

aka c.367-1G>A


ClinVar
Risk rs267607925(A;A) rs267607925(T;T)
Alt rs267607925(A;A) rs267607925(T;T)
Reference Rs267607925(G;G)
Significance Probable-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.47637232G>A
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076577.2, RCV000491499.1,