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rs63750214

From SNPedia

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


Make rs63750214(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position47410215
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750214
dbSNP (classic)rs63750214
ClinGenrs63750214
ebirs63750214
HLIrs63750214
Exacrs63750214
Gnomadrs63750214
Varsomers63750214
LitVarrs63750214
Maprs63750214
PheGenIrs63750214
Biobankrs63750214
1000 genomesrs63750214
hgdprs63750214
ensemblrs63750214
geneviewrs63750214
scholarrs63750214
googlers63750214
pharmgkbrs63750214
gwascentralrs63750214
openSNPrs63750214
23andMers63750214
SNPshotrs63750214
SNPdbers63750214
MSV3drs63750214
GWAS Ctlgrs63750214
Max Magnitude6
ClinVar
Risk rs63750214(A;A) rs63750214(C;C) rs63750214(G;G)
Alt rs63750214(A;A) rs63750214(C;C) rs63750214(G;G)
Reference Rs63750214(T;T)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I
Variation info
Gene MSH2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I
Reversed 0
HGVS NC_000002.11:g.47637354T>A; NC_000002.11:g.47637354T>C; NC_000002.11:g.47637354T>G
CLNSRC UniProtKB (protein)
CLNACC RCV000076610.2, RCV000492044.1, RCV000221949.1, RCV000076611.2,