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rs775351239

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs775351239(-;-)
Make rs775351239(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position43065250
GeneCBS
is asnp
is mentioned by
dbSNPrs775351239
ebirs775351239
HLIrs775351239
Exacrs775351239
Varsomers775351239
Maprs775351239
PheGenIrs775351239
hapmaprs775351239
1000 genomesrs775351239
hgdprs775351239
ensemblrs775351239
gopubmedrs775351239
geneviewrs775351239
scholarrs775351239
googlers775351239
pharmgkbrs775351239
gwascentralrs775351239
openSNPrs775351239
23andMers775351239
23andMe allrs775351239
SNP Nexus

SNPshotrs775351239
SNPdbers775351239
MSV3drs775351239
GWAS Ctlgrs775351239
Max Magnitude0
ClinVar
Risk rs775351239(;)
Alt rs775351239(;)
Reference rs775351239(A;A)
Significance Pathogenic
Disease Homocystinuria due to CBS deficiency not provided
Variation info
Gene CBS
CLNDBN Homocystinuria due to CBS deficiency not provided
Reversed 0
HGVS NC_000021.8:g.44485360delA
CLNSRC
CLNACC RCV000169175.1, RCV000198642.1,