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rs587783008

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783008(-;-)
Make rs587783008(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position15641893
GeneBTD
is asnp
is mentioned by
dbSNPrs587783008
dbSNP (classic)rs587783008
ClinGenrs587783008
ebirs587783008
HLIrs587783008
Exacrs587783008
Gnomadrs587783008
Varsomers587783008
LitVarrs587783008
Maprs587783008
PheGenIrs587783008
Biobankrs587783008
1000 genomesrs587783008
hgdprs587783008
ensemblrs587783008
geneviewrs587783008
scholarrs587783008
googlers587783008
pharmgkbrs587783008
gwascentralrs587783008
openSNPrs587783008
23andMers587783008
SNPshotrs587783008
SNPdbers587783008
MSV3drs587783008
GWAS Ctlgrs587783008
Max Magnitude0
ClinVar
Risk rs587783008(-;-)
Alt rs587783008(-;-)
Reference Rs587783008(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15683400delT
CLNSRC
CLNACC RCV000144063.1,