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rs397514424

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514424(A;A)
Make rs397514424(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645319
GeneBTD
is asnp
is mentioned by
dbSNPrs397514424
ebirs397514424
HLIrs397514424
Exacrs397514424
Varsomers397514424
Maprs397514424
PheGenIrs397514424
hapmaprs397514424
1000 genomesrs397514424
hgdprs397514424
ensemblrs397514424
gopubmedrs397514424
geneviewrs397514424
scholarrs397514424
googlers397514424
pharmgkbrs397514424
gwascentralrs397514424
openSNPrs397514424
23andMers397514424
23andMe allrs397514424
SNP Nexus

SNPshotrs397514424
SNPdbers397514424
MSV3drs397514424
GWAS Ctlgrs397514424
Max Magnitude0
ClinVar
Risk rs397514424(A;A)
Alt rs397514424(A;A)
Reference rs397514424(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686826G>A
CLNSRC ARUP BTD
CLNACC RCV000022018.1,