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rs63750574

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750574(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47410337
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750574
dbSNP (classic)rs63750574
ClinGenrs63750574
ebirs63750574
HLIrs63750574
Exacrs63750574
Gnomadrs63750574
Varsomers63750574
LitVarrs63750574
Maprs63750574
PheGenIrs63750574
Biobankrs63750574
1000 genomesrs63750574
hgdprs63750574
ensemblrs63750574
geneviewrs63750574
scholarrs63750574
googlers63750574
pharmgkbrs63750574
gwascentralrs63750574
openSNPrs63750574
23andMers63750574
SNPshotrs63750574
SNPdbers63750574
MSV3drs63750574
GWAS Ctlgrs63750574
Max Magnitude6
ClinVar
Risk rs63750574(A;A) rs63750574(T;T)
Alt rs63750574(A;A) rs63750574(T;T)
Reference Rs63750574(G;G)
Significance Pathogenic
Disease not specified Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I
Variation info
Gene MSH2
CLNDBN not specified Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I
Reversed 0
HGVS NC_000002.11:g.47637476G>A; NC_000002.11:g.47637476G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000115537.2, RCV000196378.2, RCV000215932.1, RCV000411245.1, RCV000076653.2,