Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517198

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517198(-;C)
Make rs1057517198(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position43072174
GeneCBS
is asnp
is mentioned by
dbSNPrs1057517198
dbSNP (classic)rs1057517198
ClinGenrs1057517198
ebirs1057517198
HLIrs1057517198
Exacrs1057517198
Gnomadrs1057517198
Varsomers1057517198
LitVarrs1057517198
Maprs1057517198
PheGenIrs1057517198
Biobankrs1057517198
1000 genomesrs1057517198
hgdprs1057517198
ensemblrs1057517198
geneviewrs1057517198
scholarrs1057517198
googlers1057517198
pharmgkbrs1057517198
gwascentralrs1057517198
openSNPrs1057517198
23andMers1057517198
23andMe allrs1057517198
SNPshotrs1057517198
SNPdbers1057517198
MSV3drs1057517198
GWAS Ctlgrs1057517198
Max Magnitude0
ClinVar
Risk rs1057517198(C;C)
Alt rs1057517198(C;C)
Reference Rs1057517198(-;-)
Significance Pathogenic
Disease Homocystinuria due to CBS deficiency not provided
Variation info
Gene CBSL CBS
CLNDBN Homocystinuria due to CBS deficiency not provided
Reversed 1
HGVS NC_000021.8:g.44492285dupG
CLNSRC
CLNACC RCV000409151.1, RCV000478091.1,