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rs794727083

From SNPedia

Orientationminus
Make rs794727083(-;-)
Make rs794727083(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position43059231
GeneCBS
is asnp
is mentioned by
dbSNPrs794727083
ebirs794727083
HLIrs794727083
Exacrs794727083
Varsomers794727083
Maprs794727083
PheGenIrs794727083
hapmaprs794727083
1000 genomesrs794727083
hgdprs794727083
ensemblrs794727083
gopubmedrs794727083
geneviewrs794727083
scholarrs794727083
googlers794727083
pharmgkbrs794727083
gwascentralrs794727083
openSNPrs794727083
23andMers794727083
23andMe allrs794727083
SNP Nexus

SNPshotrs794727083
SNPdbers794727083
MSV3drs794727083
GWAS Ctlgrs794727083
Max Magnitude
ClinVar
Risk rs794727083(;)
Alt rs794727083(;)
Reference rs794727083(G;G)
Significance Pathogenic
Disease Homocystinuria due to CBS deficiency
Variation info
Gene CBS
CLNDBN Homocystinuria due to CBS deficiency
Reversed 1
HGVS NC_000021.8:g.44479341delC
CLNSRC
CLNACC RCV000174443.1,