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rs786204757

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786204757(C;C)
Make rs786204757(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome21
Position43068523
GeneCBS
is asnp
is mentioned by
dbSNPrs786204757
ebirs786204757
HLIrs786204757
Exacrs786204757
Varsomers786204757
Maprs786204757
PheGenIrs786204757
hapmaprs786204757
1000 genomesrs786204757
hgdprs786204757
ensemblrs786204757
gopubmedrs786204757
geneviewrs786204757
scholarrs786204757
googlers786204757
pharmgkbrs786204757
gwascentralrs786204757
openSNPrs786204757
23andMers786204757
23andMe allrs786204757
SNP Nexus

SNPshotrs786204757
SNPdbers786204757
MSV3drs786204757
GWAS Ctlgrs786204757
Max Magnitude0
ClinVar
Risk rs786204757(C;C)
Alt rs786204757(C;C)
Reference rs786204757(T;T)
Significance Probable-Pathogenic
Disease Homocystinuria due to CBS deficiency
Variation info
Gene CBS
CLNDBN Homocystinuria due to CBS deficiency
Reversed 1
HGVS NC_000021.8:g.44488633A>G
CLNSRC
CLNACC RCV000169617.1,