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rs63750502

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750502(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47416323
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750502
dbSNP (classic)rs63750502
ClinGenrs63750502
ebirs63750502
HLIrs63750502
Exacrs63750502
Gnomadrs63750502
Varsomers63750502
LitVarrs63750502
Maprs63750502
PheGenIrs63750502
Biobankrs63750502
1000 genomesrs63750502
hgdprs63750502
ensemblrs63750502
geneviewrs63750502
scholarrs63750502
googlers63750502
pharmgkbrs63750502
gwascentralrs63750502
openSNPrs63750502
23andMers63750502
SNPshotrs63750502
SNPdbers63750502
MSV3drs63750502
GWAS Ctlgrs63750502
Max Magnitude6
ClinVar
Risk rs63750502(T;T)
Alt rs63750502(T;T)
Reference Rs63750502(C;C)
Significance Pathogenic
Disease Lynch syndrome not provided
Variation info
Gene MSH2
CLNDBN Lynch syndrome not provided
Reversed 0
HGVS NC_000002.11:g.47643462C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076766.2, RCV000201985.1,