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rs63750113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GACA) 6 Lynch syndrome, pathogenic mutation
(CAGA;CAGA) 0 common in clinvar
(GACA;GACA) 0 common in clinvar


Make rs63750113(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47475044
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750113
dbSNP (classic)rs63750113
ClinGenrs63750113
ebirs63750113
HLIrs63750113
Exacrs63750113
Gnomadrs63750113
Varsomers63750113
LitVarrs63750113
Maprs63750113
PheGenIrs63750113
Biobankrs63750113
1000 genomesrs63750113
hgdprs63750113
ensemblrs63750113
geneviewrs63750113
scholarrs63750113
googlers63750113
pharmgkbrs63750113
gwascentralrs63750113
openSNPrs63750113
23andMers63750113
SNPshotrs63750113
SNPdbers63750113
MSV3drs63750113
GWAS Ctlgrs63750113
Max Magnitude6
ClinVar
Risk rs63750113(-;-)
Alt rs63750113(-;-)
Reference Rs63750113(CAGA;CAGA)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47702183_47702186delGACA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076283.2,