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rs63750224

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6 Lynch syndrome
(C;C) 0 common in clinvar
(C;G) 6 Lynch syndrome, pathogenic mutation
Make rs63750224(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position47466713
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750224
dbSNP (classic)rs63750224
ClinGenrs63750224
ebirs63750224
HLIrs63750224
Exacrs63750224
Gnomadrs63750224
Varsomers63750224
LitVarrs63750224
Maprs63750224
PheGenIrs63750224
Biobankrs63750224
1000 genomesrs63750224
hgdprs63750224
ensemblrs63750224
geneviewrs63750224
scholarrs63750224
googlers63750224
pharmgkbrs63750224
gwascentralrs63750224
openSNPrs63750224
23andMers63750224
SNPshotrs63750224
SNPdbers63750224
MSV3drs63750224
GWAS Ctlgrs63750224
Max Magnitude6
ClinVar
Risk rs63750224(G;G)
Alt rs63750224(G;G)
Reference Rs63750224(C;C)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47693852C>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076195.2,