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rs121964965

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964965(A;A)
Make rs121964965(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position43066279
GeneCBS
is asnp
is mentioned by
dbSNPrs121964965
ebirs121964965
HLIrs121964965
Exacrs121964965
Varsomers121964965
Maprs121964965
PheGenIrs121964965
hapmaprs121964965
1000 genomesrs121964965
hgdprs121964965
ensemblrs121964965
gopubmedrs121964965
geneviewrs121964965
scholarrs121964965
googlers121964965
pharmgkbrs121964965
gwascentralrs121964965
openSNPrs121964965
23andMers121964965
23andMe allrs121964965
SNP Nexus

SNPshotrs121964965
SNPdbers121964965
MSV3drs121964965
GWAS Ctlgrs121964965
Max Magnitude0
OMIM613381
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121964965(A;A)
Alt rs121964965(A;A)
Reference rs121964965(G;G)
Significance Pathogenic
Disease Homocystinuria
Variation info
Gene CBS
CLNDBN Homocystinuria, pyridoxine-responsive
Reversed 1
HGVS NC_000021.8:g.44486389C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000143.3,