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rs587783006

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783006(A;C)
Make rs587783006(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position15644754
GeneBTD
is asnp
is mentioned by
dbSNPrs587783006
ebirs587783006
HLIrs587783006
Exacrs587783006
Varsomers587783006
Maprs587783006
PheGenIrs587783006
hapmaprs587783006
1000 genomesrs587783006
hgdprs587783006
ensemblrs587783006
gopubmedrs587783006
geneviewrs587783006
scholarrs587783006
googlers587783006
pharmgkbrs587783006
gwascentralrs587783006
openSNPrs587783006
23andMers587783006
23andMe allrs587783006
SNP Nexus

SNPshotrs587783006
SNPdbers587783006
MSV3drs587783006
GWAS Ctlgrs587783006
Max Magnitude0
ClinVar
Risk rs587783006(C;C)
Alt rs587783006(C;C)
Reference rs587783006(A;A)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686261A>C
CLNSRC
CLNACC RCV000144061.1,