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rs1057516895

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516895(A;A)
Make rs1057516895(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position43056888
GeneCBS
is asnp
is mentioned by
dbSNPrs1057516895
dbSNP (old)rs1057516895
ClinGenrs1057516895
ebirs1057516895
HLIrs1057516895
Exacrs1057516895
Gnomadrs1057516895
Varsomers1057516895
Maprs1057516895
PheGenIrs1057516895
Biobankrs1057516895
1000 genomesrs1057516895
hgdprs1057516895
ensemblrs1057516895
gopubmedrs1057516895
geneviewrs1057516895
scholarrs1057516895
googlers1057516895
pharmgkbrs1057516895
gwascentralrs1057516895
openSNPrs1057516895
23andMers1057516895
23andMe allrs1057516895
SNPshotrs1057516895
SNPdbers1057516895
MSV3drs1057516895
GWAS Ctlgrs1057516895
Max Magnitude0
ClinVar
Risk rs1057516895(A;A)
Alt rs1057516895(A;A)
Reference Rs1057516895(G;G)
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.44476998C>T
CLNSRC
CLNACC RCV000409904.1,