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rs587783005

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783005(C;T)
Make rs587783005(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position15644557
GeneBTD
is asnp
is mentioned by
dbSNPrs587783005
ebirs587783005
HLIrs587783005
Exacrs587783005
Varsomers587783005
Maprs587783005
PheGenIrs587783005
hapmaprs587783005
1000 genomesrs587783005
hgdprs587783005
ensemblrs587783005
gopubmedrs587783005
geneviewrs587783005
scholarrs587783005
googlers587783005
pharmgkbrs587783005
gwascentralrs587783005
openSNPrs587783005
23andMers587783005
23andMe allrs587783005
SNP Nexus

SNPshotrs587783005
SNPdbers587783005
MSV3drs587783005
GWAS Ctlgrs587783005
Max Magnitude0
ClinVar
Risk rs587783005(T;T)
Alt rs587783005(T;T)
Reference rs587783005(C;C)
Significance Pathogenic
Disease Biotinidase deficiency not provided
Variation info
Gene BTD
CLNDBN Biotinidase deficiency not provided
Reversed 0
HGVS NC_000003.11:g.15686064C>T
CLNSRC
CLNACC RCV000144060.1, RCV000185806.1,