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rs786204609

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204609(C;C)
Make rs786204609(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome21
Position43068519
GeneCBS
is asnp
is mentioned by
dbSNPrs786204609
ebirs786204609
HLIrs786204609
Exacrs786204609
Varsomers786204609
Maprs786204609
PheGenIrs786204609
hapmaprs786204609
1000 genomesrs786204609
hgdprs786204609
ensemblrs786204609
gopubmedrs786204609
geneviewrs786204609
scholarrs786204609
googlers786204609
pharmgkbrs786204609
gwascentralrs786204609
openSNPrs786204609
23andMers786204609
23andMe allrs786204609
SNP Nexus

SNPshotrs786204609
SNPdbers786204609
MSV3drs786204609
GWAS Ctlgrs786204609
Max Magnitude0
ClinVar
Risk rs786204609(C;C)
Alt rs786204609(C;C)
Reference rs786204609(G;G)
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.44488629C>G
CLNSRC
CLNACC RCV000169368.1, RCV000199277.1,