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rs398123151

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123151(C;T)
Make rs398123151(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position43062344
GeneCBS
is asnp
is mentioned by
dbSNPrs398123151
ebirs398123151
HLIrs398123151
Exacrs398123151
Varsomers398123151
Maprs398123151
PheGenIrs398123151
hapmaprs398123151
1000 genomesrs398123151
hgdprs398123151
ensemblrs398123151
gopubmedrs398123151
geneviewrs398123151
scholarrs398123151
googlers398123151
pharmgkbrs398123151
gwascentralrs398123151
openSNPrs398123151
23andMers398123151
23andMe allrs398123151
SNP Nexus

SNPshotrs398123151
SNPdbers398123151
MSV3drs398123151
GWAS Ctlgrs398123151
Max Magnitude0
ClinVar
Risk rs398123151(T;T)
Alt rs398123151(T;T)
Reference rs398123151(C;C)
Significance Pathogenic
Disease not provided Homocystinuria due to CBS deficiency
Variation info
Gene CBS
CLNDBN not provided Homocystinuria due to CBS deficiency
Reversed 1
HGVS NC_000021.8:g.44482454G>A
CLNSRC HGMD
CLNACC RCV000078105.5, RCV000169310.2,