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rs786204679

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204679(A;A)
Make rs786204679(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome21
Position43058833
GeneCBS
is asnp
is mentioned by
dbSNPrs786204679
ebirs786204679
HLIrs786204679
Exacrs786204679
Varsomers786204679
Maprs786204679
PheGenIrs786204679
hapmaprs786204679
1000 genomesrs786204679
hgdprs786204679
ensemblrs786204679
gopubmedrs786204679
geneviewrs786204679
scholarrs786204679
googlers786204679
pharmgkbrs786204679
gwascentralrs786204679
openSNPrs786204679
23andMers786204679
23andMe allrs786204679
SNP Nexus

SNPshotrs786204679
SNPdbers786204679
MSV3drs786204679
GWAS Ctlgrs786204679
Max Magnitude0
ClinVar
Risk rs786204679(A;A)
Alt rs786204679(A;A)
Reference rs786204679(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.44478943C>T
CLNSRC
CLNACC RCV000169487.1,