Have questions? Visit https://www.reddit.com/r/SNPedia

rs267607969

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 rs267607969(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47466809
GeneMSH2
is asnp
is mentioned by
dbSNPrs267607969
dbSNP (classic)rs267607969
ClinGenrs267607969
ebirs267607969
HLIrs267607969
Exacrs267607969
Gnomadrs267607969
Varsomers267607969
LitVarrs267607969
Maprs267607969
PheGenIrs267607969
Biobankrs267607969
1000 genomesrs267607969
hgdprs267607969
ensemblrs267607969
geneviewrs267607969
scholarrs267607969
googlers267607969
pharmgkbrs267607969
gwascentralrs267607969
openSNPrs267607969
23andMers267607969
SNPshotrs267607969
SNPdbers267607969
MSV3drs267607969
GWAS Ctlgrs267607969
Max Magnitude6
ClinVar
Risk rs267607969(A;A) rs267607969(T;T)
Alt rs267607969(A;A) rs267607969(T;T)
Reference Rs267607969(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.47693948G>A; NC_000002.11:g.47693948G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076216.2, RCV000076217.2, RCV000491252.1,