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rs397514421

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514421(A;A)
Make rs397514421(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645244
GeneBTD
is asnp
is mentioned by
dbSNPrs397514421
ebirs397514421
HLIrs397514421
Exacrs397514421
Varsomers397514421
Maprs397514421
PheGenIrs397514421
hapmaprs397514421
1000 genomesrs397514421
hgdprs397514421
ensemblrs397514421
gopubmedrs397514421
geneviewrs397514421
scholarrs397514421
googlers397514421
pharmgkbrs397514421
gwascentralrs397514421
openSNPrs397514421
23andMers397514421
23andMe allrs397514421
SNP Nexus

SNPshotrs397514421
SNPdbers397514421
MSV3drs397514421
GWAS Ctlgrs397514421
Max Magnitude0
ClinVar
Risk rs397514421(A;A)
Alt rs397514421(A;A)
Reference rs397514421(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686751G>A
CLNSRC ARUP BTD
CLNACC RCV000022012.1,