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rs1057517435

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs1057517435(CC;GGTG)
Make rs1057517435(GGTG;GGTG)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position43065231
GeneCBS
is asnp
is mentioned by
dbSNPrs1057517435
dbSNP (classic)rs1057517435
ClinGenrs1057517435
ebirs1057517435
HLIrs1057517435
Exacrs1057517435
Gnomadrs1057517435
Varsomers1057517435
LitVarrs1057517435
Maprs1057517435
PheGenIrs1057517435
Biobankrs1057517435
1000 genomesrs1057517435
hgdprs1057517435
ensemblrs1057517435
geneviewrs1057517435
scholarrs1057517435
googlers1057517435
pharmgkbrs1057517435
gwascentralrs1057517435
openSNPrs1057517435
23andMers1057517435
23andMe allrs1057517435
SNPshotrs1057517435
SNPdbers1057517435
MSV3drs1057517435
GWAS Ctlgrs1057517435
Max Magnitude0
ClinVar
Risk rs1057517435(GGTG;GGTG)
Alt rs1057517435(GGTG;GGTG)
Reference Rs1057517435(CC;CC)
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.44485341_44485342delGGinsCACC
CLNSRC
CLNACC RCV000409103.1,