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rs397514430

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397514430(-;-)
Make rs397514430(-;T)
Make rs397514430(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645472
GeneBTD
is asnp
is mentioned by
dbSNPrs397514430
ebirs397514430
HLIrs397514430
Exacrs397514430
Varsomers397514430
Maprs397514430
PheGenIrs397514430
hapmaprs397514430
1000 genomesrs397514430
hgdprs397514430
ensemblrs397514430
gopubmedrs397514430
geneviewrs397514430
scholarrs397514430
googlers397514430
pharmgkbrs397514430
gwascentralrs397514430
openSNPrs397514430
23andMers397514430
23andMe allrs397514430
SNP Nexus

SNPshotrs397514430
SNPdbers397514430
MSV3drs397514430
GWAS Ctlgrs397514430
Max Magnitude0
ClinVar
Risk rs397514430(T;T)
Alt rs397514430(T;T)
Reference rs397514430(;)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686979dupT
CLNSRC ClinVar
CLNACC RCV000022025.1,