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rs397514381

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514381(A;A)
Make rs397514381(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644565
GeneBTD
is asnp
is mentioned by
dbSNPrs397514381
ebirs397514381
HLIrs397514381
Exacrs397514381
Varsomers397514381
Maprs397514381
PheGenIrs397514381
hapmaprs397514381
1000 genomesrs397514381
hgdprs397514381
ensemblrs397514381
gopubmedrs397514381
geneviewrs397514381
scholarrs397514381
googlers397514381
pharmgkbrs397514381
gwascentralrs397514381
openSNPrs397514381
23andMers397514381
23andMe allrs397514381
SNP Nexus

SNPshotrs397514381
SNPdbers397514381
MSV3drs397514381
GWAS Ctlgrs397514381
Max Magnitude0
ClinVar
Risk rs397514381(A;A)
Alt rs397514381(A;A)
Reference rs397514381(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686072G>A
CLNSRC ARUP BTD
CLNACC RCV000021958.1,