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rs763036586

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs763036586(C;T)
Make rs763036586(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position43060450
GeneCBS
is asnp
is mentioned by
dbSNPrs763036586
ebirs763036586
HLIrs763036586
Exacrs763036586
Varsomers763036586
Maprs763036586
PheGenIrs763036586
hapmaprs763036586
1000 genomesrs763036586
hgdprs763036586
ensemblrs763036586
gopubmedrs763036586
geneviewrs763036586
scholarrs763036586
googlers763036586
pharmgkbrs763036586
gwascentralrs763036586
openSNPrs763036586
23andMers763036586
23andMe allrs763036586
SNP Nexus

SNPshotrs763036586
SNPdbers763036586
MSV3drs763036586
GWAS Ctlgrs763036586
Max Magnitude0
ClinVar
Risk rs763036586(T;T)
Alt rs763036586(T;T)
Reference rs763036586(C;C)
Significance Probable-Pathogenic
Disease Homocystinuria due to CBS deficiency
Variation info
Gene CBS
CLNDBN Homocystinuria due to CBS deficiency
Reversed 0
HGVS NC_000021.8:g.44480560C>T
CLNSRC
CLNACC RCV000169171.1,