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rs63750589

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 Lynch syndrome, pathogenic mutation
(I;I) 0
Make rs63750589(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position47403220
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750589
dbSNP (classic)rs63750589
ClinGenrs63750589
ebirs63750589
HLIrs63750589
Exacrs63750589
Gnomadrs63750589
Varsomers63750589
LitVarrs63750589
Maprs63750589
PheGenIrs63750589
Biobankrs63750589
1000 genomesrs63750589
hgdprs63750589
ensemblrs63750589
geneviewrs63750589
scholarrs63750589
googlers63750589
pharmgkbrs63750589
gwascentralrs63750589
openSNPrs63750589
23andMers63750589
SNPshotrs63750589
SNPdbers63750589
MSV3drs63750589
GWAS Ctlgrs63750589
Max Magnitude6
ClinVar
Risk rs63750589(A;A)
Alt rs63750589(A;A)
Reference Rs63750589(-;-)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47630359dupA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076560.2,