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rs781444670

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs781444670(C;T)
Make rs781444670(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position43066320
GeneCBS
is asnp
is mentioned by
dbSNPrs781444670
ebirs781444670
HLIrs781444670
Exacrs781444670
Varsomers781444670
Maprs781444670
PheGenIrs781444670
hapmaprs781444670
1000 genomesrs781444670
hgdprs781444670
ensemblrs781444670
gopubmedrs781444670
geneviewrs781444670
scholarrs781444670
googlers781444670
pharmgkbrs781444670
gwascentralrs781444670
openSNPrs781444670
23andMers781444670
23andMe allrs781444670
SNP Nexus

SNPshotrs781444670
SNPdbers781444670
MSV3drs781444670
GWAS Ctlgrs781444670
Max Magnitude0
ClinVar
Risk rs781444670(T;T)
Alt rs781444670(T;T)
Reference rs781444670(C;C)
Significance Pathogenic
Disease Homocystinuria due to CBS deficiency
Variation info
Gene CBS
CLNDBN Homocystinuria due to CBS deficiency
Reversed 0
HGVS NC_000021.8:g.44486430C>T
CLNSRC
CLNACC RCV000178709.1,