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rs767036273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs767036273(-;-)
Make rs767036273(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position43065680
GeneCBS
is asnp
is mentioned by
dbSNPrs767036273
dbSNP (classic)rs767036273
ClinGenrs767036273
ebirs767036273
HLIrs767036273
Exacrs767036273
Gnomadrs767036273
Varsomers767036273
LitVarrs767036273
Maprs767036273
PheGenIrs767036273
Biobankrs767036273
1000 genomesrs767036273
hgdprs767036273
ensemblrs767036273
geneviewrs767036273
scholarrs767036273
googlers767036273
pharmgkbrs767036273
gwascentralrs767036273
openSNPrs767036273
23andMers767036273
SNPshotrs767036273
SNPdbers767036273
MSV3drs767036273
GWAS Ctlgrs767036273
Max Magnitude0
ClinVar
Risk rs767036273(-;-)
Alt rs767036273(-;-)
Reference Rs767036273(A;A)
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.44485790delA
CLNSRC
CLNACC RCV000412346.1,