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rs63750398

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 Lynch syndrome
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750398(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47476451
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750398
dbSNP (classic)rs63750398
ClinGenrs63750398
ebirs63750398
HLIrs63750398
Exacrs63750398
Gnomadrs63750398
Varsomers63750398
LitVarrs63750398
Maprs63750398
PheGenIrs63750398
Biobankrs63750398
1000 genomesrs63750398
hgdprs63750398
ensemblrs63750398
geneviewrs63750398
scholarrs63750398
googlers63750398
pharmgkbrs63750398
gwascentralrs63750398
openSNPrs63750398
23andMers63750398
SNPshotrs63750398
SNPdbers63750398
MSV3drs63750398
GWAS Ctlgrs63750398
Max Magnitude6
ClinVar
Risk rs63750398(A;A) rs63750398(T;T)
Alt rs63750398(A;A) rs63750398(T;T)
Reference Rs63750398(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Lynch syndrome I Lynch syndrome
Variation info
Gene MSH2
CLNDBN Hereditary cancer-predisposing syndrome Lynch syndrome I Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47703590G>A; NC_000002.11:g.47703590G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000167253.2, RCV000490613.1, RCV000076385.2,