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rs28934891

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28934891(A;A)
Make rs28934891(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position43058862
GeneCBS
is asnp
is mentioned by
dbSNPrs28934891
ebirs28934891
HLIrs28934891
Exacrs28934891
Varsomers28934891
Maprs28934891
PheGenIrs28934891
hapmaprs28934891
1000 genomesrs28934891
hgdprs28934891
ensemblrs28934891
gopubmedrs28934891
geneviewrs28934891
scholarrs28934891
googlers28934891
pharmgkbrs28934891
gwascentralrs28934891
openSNPrs28934891
23andMers28934891
23andMe allrs28934891
SNP Nexus

SNPshotrs28934891
SNPdbers28934891
MSV3drs28934891
GWAS Ctlgrs28934891
Max Magnitude0
OMIM236200
DescHOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE
Variant0010
Relatedalso
Neighborrs28934892
Distance65
OMIM613381
Desc
Variant0010
Relatedalso


ClinVar
Risk rs28934891(A;A)
Alt rs28934891(A;A)
Reference rs28934891(G;G)
Significance Pathogenic
Disease Homocystinuria HYPERHOMOCYSTEINEMIA not provided Homocystinuria due to CBS deficiency
Variation info
Gene CBS
CLNDBN Homocystinuria, pyridoxine-responsive HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED not provided Homocystinuria due to CBS deficiency
Reversed 1
HGVS NC_000021.8:g.44478972C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000000148.2, RCV000000149.2, RCV000078108.4, RCV000174656.1,