Have questions? Visit https://www.reddit.com/r/SNPedia

rs758236584

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs758236584(A;A)
Make rs758236584(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position43063958
GeneCBS
is asnp
is mentioned by
dbSNPrs758236584
ebirs758236584
HLIrs758236584
Exacrs758236584
Varsomers758236584
Maprs758236584
PheGenIrs758236584
hapmaprs758236584
1000 genomesrs758236584
hgdprs758236584
ensemblrs758236584
gopubmedrs758236584
geneviewrs758236584
scholarrs758236584
googlers758236584
pharmgkbrs758236584
gwascentralrs758236584
openSNPrs758236584
23andMers758236584
23andMe allrs758236584
SNP Nexus

SNPshotrs758236584
SNPdbers758236584
MSV3drs758236584
GWAS Ctlgrs758236584
Max Magnitude0
ClinVar
Risk rs758236584(A;A)
Alt rs758236584(A;A)
Reference rs758236584(G;G)
Significance Pathogenic
Disease Homocystinuria due to CBS deficiency not provided
Variation info
Gene CBS
CLNDBN Homocystinuria due to CBS deficiency not provided
Reversed 0
HGVS NC_000021.8:g.44484068G>A
CLNSRC
CLNACC RCV000169294.1, RCV000197988.1,