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rs267607971

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6 Possible miscall in Ancestry v2c data; otherwise, Lynch syndrome, pathogenic mutation
Make rs267607971(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position47470963
GeneMSH2
is asnp
is mentioned by
dbSNPrs267607971
dbSNP (classic)rs267607971
ClinGenrs267607971
ebirs267607971
HLIrs267607971
Exacrs267607971
Gnomadrs267607971
Varsomers267607971
LitVarrs267607971
Maprs267607971
PheGenIrs267607971
Biobankrs267607971
1000 genomesrs267607971
hgdprs267607971
ensemblrs267607971
geneviewrs267607971
scholarrs267607971
googlers267607971
pharmgkbrs267607971
gwascentralrs267607971
openSNPrs267607971
23andMers267607971
SNPshotrs267607971
SNPdbers267607971
MSV3drs267607971
GWAS Ctlgrs267607971
Max Magnitude6

aka c.1662-2A>G

ClinVar
Risk rs267607971(G;G)
Alt rs267607971(G;G)
Reference Rs267607971(A;A)
Significance Probable-Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47698102A>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076225.2,