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rs147474549

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs147474549(C;T)
Make rs147474549(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position43066294
GeneCBS
is asnp
is mentioned by
dbSNPrs147474549
dbSNP (classic)rs147474549
ClinGenrs147474549
ebirs147474549
HLIrs147474549
Exacrs147474549
Gnomadrs147474549
Varsomers147474549
LitVarrs147474549
Maprs147474549
PheGenIrs147474549
Biobankrs147474549
1000 genomesrs147474549
hgdprs147474549
ensemblrs147474549
geneviewrs147474549
scholarrs147474549
googlers147474549
pharmgkbrs147474549
gwascentralrs147474549
openSNPrs147474549
23andMers147474549
SNPshotrs147474549
SNPdbers147474549
MSV3drs147474549
GWAS Ctlgrs147474549
Max Magnitude0
ClinVar
Risk rs147474549(G;G) rs147474549(T;T)
Alt rs147474549(G;G) rs147474549(T;T)
Reference Rs147474549(C;C)
Significance Probable-Pathogenic
Disease not provided Homocystinuria due to CBS deficiency
Variation info
Gene CBSL CBS
CLNDBN not provided Homocystinuria due to CBS deficiency
Reversed 0
HGVS NC_000021.8:g.44486404C>T
CLNSRC
CLNACC RCV000196511.1, RCV000469139.1,