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rs770095972

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs770095972(C;T)
Make rs770095972(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position43066332
GeneCBS
is asnp
is mentioned by
dbSNPrs770095972
ebirs770095972
HLIrs770095972
Exacrs770095972
Varsomers770095972
Maprs770095972
PheGenIrs770095972
hapmaprs770095972
1000 genomesrs770095972
hgdprs770095972
ensemblrs770095972
gopubmedrs770095972
geneviewrs770095972
scholarrs770095972
googlers770095972
pharmgkbrs770095972
gwascentralrs770095972
openSNPrs770095972
23andMers770095972
23andMe allrs770095972
SNP Nexus

SNPshotrs770095972
SNPdbers770095972
MSV3drs770095972
GWAS Ctlgrs770095972
Max Magnitude0
ClinVar
Risk rs770095972(A,T;A,T)
Alt rs770095972(A,T;A,T)
Reference rs770095972(C;C)
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.44486442C>A; NC_000021.8:g.44486442C>T
CLNSRC
CLNACC RCV000190373.1, RCV000169322.1, RCV000199075.1,