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

rs121964969

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964969(A;A)
Make rs121964969(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position43063931
GeneCBS
is asnp
is mentioned by
dbSNPrs121964969
ebirs121964969
HLIrs121964969
Exacrs121964969
Varsomers121964969
Maprs121964969
PheGenIrs121964969
hapmaprs121964969
1000 genomesrs121964969
hgdprs121964969
ensemblrs121964969
gopubmedrs121964969
geneviewrs121964969
scholarrs121964969
googlers121964969
pharmgkbrs121964969
gwascentralrs121964969
openSNPrs121964969
23andMers121964969
23andMe allrs121964969
SNP Nexus

SNPshotrs121964969
SNPdbers121964969
MSV3drs121964969
GWAS Ctlgrs121964969
Merged fromRs28934275
Max Magnitude0
OMIM613381
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121964969(A;A)
Alt rs121964969(A;A)
Reference rs121964969(G;G)
Significance Pathogenic
Disease Homocystinuria
Variation info
Gene CBS
CLNDBN Homocystinuria, pyridoxine-responsive
Reversed 1
HGVS NC_000021.8:g.44484041C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000147.2,