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

rs121964966

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964966(A;A)
Make rs121964966(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position43066264
GeneCBS
is asnp
is mentioned by
dbSNPrs121964966
ebirs121964966
HLIrs121964966
Exacrs121964966
Varsomers121964966
Maprs121964966
PheGenIrs121964966
hapmaprs121964966
1000 genomesrs121964966
hgdprs121964966
ensemblrs121964966
gopubmedrs121964966
geneviewrs121964966
scholarrs121964966
googlers121964966
pharmgkbrs121964966
gwascentralrs121964966
openSNPrs121964966
23andMers121964966
23andMe allrs121964966
SNP Nexus

SNPshotrs121964966
SNPdbers121964966
MSV3drs121964966
GWAS Ctlgrs121964966
Max Magnitude0
OMIM613381
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121964966(A,C;A,C)
Alt rs121964966(A,C;A,C)
Reference rs121964966(G;G)
Significance Pathogenic
Disease Homocystinuria Homocystinuria due to CBS deficiency
Variation info
Gene CBS
CLNDBN Homocystinuria, pyridoxine-responsive Homocystinuria due to CBS deficiency
Reversed 1
HGVS NC_000021.8:g.44486374C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000144.3, RCV000169074.1,