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rs786204466

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204466(-;-)
Make rs786204466(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome21
Position43053970
GeneCBS
is asnp
is mentioned by
dbSNPrs786204466
ebirs786204466
HLIrs786204466
Exacrs786204466
Varsomers786204466
Maprs786204466
PheGenIrs786204466
hapmaprs786204466
1000 genomesrs786204466
hgdprs786204466
ensemblrs786204466
gopubmedrs786204466
geneviewrs786204466
scholarrs786204466
googlers786204466
pharmgkbrs786204466
gwascentralrs786204466
openSNPrs786204466
23andMers786204466
23andMe allrs786204466
SNP Nexus

SNPshotrs786204466
SNPdbers786204466
MSV3drs786204466
GWAS Ctlgrs786204466
Max Magnitude0
ClinVar
Risk rs786204466(;)
Alt rs786204466(;)
Reference rs786204466(G;G)
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.44474080delC
CLNSRC
CLNACC RCV000169113.1,