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rs1057516645

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516645(A;T)
Make rs1057516645(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position43058871
GeneCBS
is asnp
is mentioned by
dbSNPrs1057516645
dbSNP (old)rs1057516645
ClinGenrs1057516645
ebirs1057516645
HLIrs1057516645
Exacrs1057516645
Gnomadrs1057516645
Varsomers1057516645
Maprs1057516645
PheGenIrs1057516645
Biobankrs1057516645
1000 genomesrs1057516645
hgdprs1057516645
ensemblrs1057516645
gopubmedrs1057516645
geneviewrs1057516645
scholarrs1057516645
googlers1057516645
pharmgkbrs1057516645
gwascentralrs1057516645
openSNPrs1057516645
23andMers1057516645
23andMe allrs1057516645
SNPshotrs1057516645
SNPdbers1057516645
MSV3drs1057516645
GWAS Ctlgrs1057516645
Max Magnitude0
ClinVar
Risk rs1057516645(T;T)
Alt rs1057516645(T;T)
Reference Rs1057516645(A;A)
Significance Probable-Pathogenic
Disease Homocystinuria due to CBS deficiency
Variation info
Gene CBSL CBS
CLNDBN Homocystinuria due to CBS deficiency
Reversed 1
HGVS NC_000021.8:g.44478981T>A
CLNSRC
CLNACC RCV000412412.1,