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rs397514433

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514433(A;A)
Make rs397514433(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644857
GeneBTD
is asnp
is mentioned by
dbSNPrs397514433
ebirs397514433
HLIrs397514433
Exacrs397514433
Varsomers397514433
Maprs397514433
PheGenIrs397514433
hapmaprs397514433
1000 genomesrs397514433
hgdprs397514433
ensemblrs397514433
gopubmedrs397514433
geneviewrs397514433
scholarrs397514433
googlers397514433
pharmgkbrs397514433
gwascentralrs397514433
openSNPrs397514433
23andMers397514433
23andMe allrs397514433
SNP Nexus

SNPshotrs397514433
SNPdbers397514433
MSV3drs397514433
GWAS Ctlgrs397514433
Max Magnitude0
ClinVar
Risk rs397514433(A;A)
Alt rs397514433(A;A)
Reference rs397514433(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686364T>A
CLNSRC ARUP BTD
CLNACC RCV000022032.1,