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rs63750894

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


Make rs63750894(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position47403320
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750894
dbSNP (old)rs63750894
ClinGenrs63750894
ebirs63750894
HLIrs63750894
Exacrs63750894
Gnomadrs63750894
Varsomers63750894
Maprs63750894
PheGenIrs63750894
Biobankrs63750894
1000 genomesrs63750894
hgdprs63750894
ensemblrs63750894
gopubmedrs63750894
geneviewrs63750894
scholarrs63750894
googlers63750894
pharmgkbrs63750894
gwascentralrs63750894
openSNPrs63750894
23andMers63750894
23andMe allrs63750894
SNPshotrs63750894
SNPdbers63750894
MSV3drs63750894
GWAS Ctlgrs63750894
Max Magnitude6
ClinVar
Risk rs63750894(A;A) rs63750894(C;C) rs63750894(G;G)
Alt rs63750894(A;A) rs63750894(C;C) rs63750894(G;G)
Reference Rs63750894(T;T)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Lynch syndrome
Variation info
Gene MSH2
CLNDBN Hereditary cancer-predisposing syndrome Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47630459T>C; NC_000002.11:g.47630459T>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000491253.1, RCV000076117.2,