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rs63750291

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750291(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47480818
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750291
dbSNP (classic)rs63750291
ClinGenrs63750291
ebirs63750291
HLIrs63750291
Exacrs63750291
Gnomadrs63750291
Varsomers63750291
LitVarrs63750291
Maprs63750291
PheGenIrs63750291
Biobankrs63750291
1000 genomesrs63750291
hgdprs63750291
ensemblrs63750291
geneviewrs63750291
scholarrs63750291
googlers63750291
pharmgkbrs63750291
gwascentralrs63750291
openSNPrs63750291
23andMers63750291
SNPshotrs63750291
SNPdbers63750291
MSV3drs63750291
GWAS Ctlgrs63750291
Max Magnitude6
ClinVar
Risk rs63750291(T;T)
Alt rs63750291(T;T)
Reference Rs63750291(C;C)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47707957C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076509.2, RCV000491532.1,