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

rs199948079

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199948079(C;T)
Make rs199948079(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position43072032
GeneCBS
is asnp
is mentioned by
dbSNPrs199948079
dbSNP (classic)rs199948079
ClinGenrs199948079
ebirs199948079
HLIrs199948079
Exacrs199948079
Gnomadrs199948079
Varsomers199948079
LitVarrs199948079
Maprs199948079
PheGenIrs199948079
Biobankrs199948079
1000 genomesrs199948079
hgdprs199948079
ensemblrs199948079
geneviewrs199948079
scholarrs199948079
googlers199948079
pharmgkbrs199948079
gwascentralrs199948079
openSNPrs199948079
23andMers199948079
SNPshotrs199948079
SNPdbers199948079
MSV3drs199948079
GWAS Ctlgrs199948079
Max Magnitude0
ClinVar
Risk rs199948079(T;T)
Alt rs199948079(T;T)
Reference Rs199948079(C;C)
Significance Probable-Pathogenic
Disease Homocystinuria due to CBS deficiency
Variation info
Gene CBSL CBS
CLNDBN Homocystinuria due to CBS deficiency
Reversed 0
HGVS NC_000021.8:g.44492142C>T
CLNSRC
CLNACC RCV000409663.1,