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rs397514403

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs397514403(-;-)
Make rs397514403(-;GA)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645047
GeneBTD
is asnp
is mentioned by
dbSNPrs397514403
ebirs397514403
HLIrs397514403
Exacrs397514403
Varsomers397514403
Maprs397514403
PheGenIrs397514403
hapmaprs397514403
1000 genomesrs397514403
hgdprs397514403
ensemblrs397514403
gopubmedrs397514403
geneviewrs397514403
scholarrs397514403
googlers397514403
pharmgkbrs397514403
gwascentralrs397514403
openSNPrs397514403
23andMers397514403
23andMe allrs397514403
SNP Nexus

SNPshotrs397514403
SNPdbers397514403
MSV3drs397514403
GWAS Ctlgrs397514403
Max Magnitude0
ClinVar
Risk rs397514403(;)
Alt rs397514403(;)
Reference rs397514403(GA;GA)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686554_15686555delGA
CLNSRC ClinVar
CLNACC RCV000021986.1,