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rs1057516256

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516256(A;A)
Make rs1057516256(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position43068508
GeneCBS
is asnp
is mentioned by
dbSNPrs1057516256
dbSNP (old)rs1057516256
ClinGenrs1057516256
ebirs1057516256
HLIrs1057516256
Exacrs1057516256
Gnomadrs1057516256
Varsomers1057516256
Maprs1057516256
PheGenIrs1057516256
Biobankrs1057516256
1000 genomesrs1057516256
hgdprs1057516256
ensemblrs1057516256
gopubmedrs1057516256
geneviewrs1057516256
scholarrs1057516256
googlers1057516256
pharmgkbrs1057516256
gwascentralrs1057516256
openSNPrs1057516256
23andMers1057516256
23andMe allrs1057516256
SNPshotrs1057516256
SNPdbers1057516256
MSV3drs1057516256
GWAS Ctlgrs1057516256
Max Magnitude0
ClinVar
Risk rs1057516256(A;A)
Alt rs1057516256(A;A)
Reference Rs1057516256(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.44488618C>T
CLNSRC
CLNACC RCV000411421.1,