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rs63750493

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 Lynch syndrome, pathogenic mutation
Make rs63750493(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position47475100
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750493
dbSNP (classic)rs63750493
ClinGenrs63750493
ebirs63750493
HLIrs63750493
Exacrs63750493
Gnomadrs63750493
Varsomers63750493
LitVarrs63750493
Maprs63750493
PheGenIrs63750493
Biobankrs63750493
1000 genomesrs63750493
hgdprs63750493
ensemblrs63750493
geneviewrs63750493
scholarrs63750493
googlers63750493
pharmgkbrs63750493
gwascentralrs63750493
openSNPrs63750493
23andMers63750493
SNPshotrs63750493
SNPdbers63750493
MSV3drs63750493
GWAS Ctlgrs63750493
Max Magnitude6
ClinVar
Risk rs63750493(G;G)
Alt rs63750493(G;G)
Reference Rs63750493(C;C)
Significance Pathogenic
Disease Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47702239C>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076300.2, RCV000202183.1, RCV000491040.1,