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rs786204608

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204608(C;G)
Make rs786204608(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome21
Position43068592
GeneCBS
is asnp
is mentioned by
dbSNPrs786204608
ebirs786204608
HLIrs786204608
Exacrs786204608
Varsomers786204608
Maprs786204608
PheGenIrs786204608
hapmaprs786204608
1000 genomesrs786204608
hgdprs786204608
ensemblrs786204608
gopubmedrs786204608
geneviewrs786204608
scholarrs786204608
googlers786204608
pharmgkbrs786204608
gwascentralrs786204608
openSNPrs786204608
23andMers786204608
23andMe allrs786204608
SNP Nexus

SNPshotrs786204608
SNPdbers786204608
MSV3drs786204608
GWAS Ctlgrs786204608
Max Magnitude0
ClinVar
Risk rs786204608(G;G)
Alt rs786204608(G;G)
Reference rs786204608(C;C)
Significance Pathogenic
Disease Homocystinuria due to CBS deficiency not provided
Variation info
Gene CBS
CLNDBN Homocystinuria due to CBS deficiency not provided
Reversed 1
HGVS NC_000021.8:g.44488702G>C
CLNSRC
CLNACC RCV000169367.1, RCV000199435.1,