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rs587783003

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783003(C;G)
Make rs587783003(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position15642053
GeneBTD
is asnp
is mentioned by
dbSNPrs587783003
ebirs587783003
HLIrs587783003
Exacrs587783003
Varsomers587783003
Maprs587783003
PheGenIrs587783003
hapmaprs587783003
1000 genomesrs587783003
hgdprs587783003
ensemblrs587783003
gopubmedrs587783003
geneviewrs587783003
scholarrs587783003
googlers587783003
pharmgkbrs587783003
gwascentralrs587783003
openSNPrs587783003
23andMers587783003
23andMe allrs587783003
SNP Nexus

SNPshotrs587783003
SNPdbers587783003
MSV3drs587783003
GWAS Ctlgrs587783003
Max Magnitude0
ClinVar
Risk rs587783003(G,T;G,T)
Alt rs587783003(G,T;G,T)
Reference rs587783003(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15683560C>G
CLNSRC
CLNACC RCV000144057.1,