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rs63750960

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GAAG) 6 Lynch syndrome, pathogenic mutation
(AAGG;AAGG) 0 common in clinvar
(GAAG;GAAG) 0 common in clinvar
(I;I) 0


Make rs63750960(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47475154
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750960
dbSNP (classic)rs63750960
ClinGenrs63750960
ebirs63750960
HLIrs63750960
Exacrs63750960
Gnomadrs63750960
Varsomers63750960
LitVarrs63750960
Maprs63750960
PheGenIrs63750960
Biobankrs63750960
1000 genomesrs63750960
hgdprs63750960
ensemblrs63750960
geneviewrs63750960
scholarrs63750960
googlers63750960
pharmgkbrs63750960
gwascentralrs63750960
openSNPrs63750960
23andMers63750960
SNPshotrs63750960
SNPdbers63750960
MSV3drs63750960
GWAS Ctlgrs63750960
Max Magnitude6
ClinVar
Risk rs63750960(-;-)
Alt rs63750960(-;-)
Reference Rs63750960(AAGG;AAGG)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47702293_47702296delGAAG
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076315.2,