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rs63750488

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750488(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47412483
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750488
dbSNP (classic)rs63750488
ClinGenrs63750488
ebirs63750488
HLIrs63750488
Exacrs63750488
Gnomadrs63750488
Varsomers63750488
LitVarrs63750488
Maprs63750488
PheGenIrs63750488
Biobankrs63750488
1000 genomesrs63750488
hgdprs63750488
ensemblrs63750488
geneviewrs63750488
scholarrs63750488
googlers63750488
pharmgkbrs63750488
gwascentralrs63750488
openSNPrs63750488
23andMers63750488
SNPshotrs63750488
SNPdbers63750488
MSV3drs63750488
GWAS Ctlgrs63750488
Max Magnitude6
ClinVar
Risk rs63750488(G;G) rs63750488(T;T)
Alt rs63750488(G;G) rs63750488(T;T)
Reference Rs63750488(C;C)
Significance Pathogenic
Disease Lynch syndrome Lynch syndrome I
Variation info
Gene MSH2
CLNDBN Lynch syndrome Lynch syndrome I
Reversed 0
HGVS NC_000002.11:g.47639622C>G; NC_000002.11:g.47639622C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000456715.1, RCV000076689.2, RCV000410998.1,