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rs1057517083

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517083(-;-)
Make rs1057517083(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position43066292
GeneCBS
is asnp
is mentioned by
dbSNPrs1057517083
dbSNP (old)rs1057517083
ClinGenrs1057517083
ebirs1057517083
HLIrs1057517083
Exacrs1057517083
Gnomadrs1057517083
Varsomers1057517083
Maprs1057517083
PheGenIrs1057517083
Biobankrs1057517083
1000 genomesrs1057517083
hgdprs1057517083
ensemblrs1057517083
gopubmedrs1057517083
geneviewrs1057517083
scholarrs1057517083
googlers1057517083
pharmgkbrs1057517083
gwascentralrs1057517083
openSNPrs1057517083
23andMers1057517083
23andMe allrs1057517083
SNPshotrs1057517083
SNPdbers1057517083
MSV3drs1057517083
GWAS Ctlgrs1057517083
Max Magnitude0
ClinVar
Risk rs1057517083(-;-)
Alt rs1057517083(-;-)
Reference Rs1057517083(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.44486402delC
CLNSRC
CLNACC RCV000411736.1,