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rs1057517373

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517373(A;A)
Make rs1057517373(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position43062952
GeneCBS
is asnp
is mentioned by
dbSNPrs1057517373
dbSNP (old)rs1057517373
ClinGenrs1057517373
ebirs1057517373
HLIrs1057517373
Exacrs1057517373
Gnomadrs1057517373
Varsomers1057517373
LitVarrs1057517373
Maprs1057517373
PheGenIrs1057517373
Biobankrs1057517373
1000 genomesrs1057517373
hgdprs1057517373
ensemblrs1057517373
gopubmedrs1057517373
geneviewrs1057517373
scholarrs1057517373
googlers1057517373
pharmgkbrs1057517373
gwascentralrs1057517373
openSNPrs1057517373
23andMers1057517373
23andMe allrs1057517373
SNPshotrs1057517373
SNPdbers1057517373
MSV3drs1057517373
GWAS Ctlgrs1057517373
Max Magnitude0
ClinVar
Risk rs1057517373(A;A)
Alt rs1057517373(A;A)
Reference Rs1057517373(G;G)
Significance 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.44483062C>T
CLNSRC
CLNACC RCV000409556.1,