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rs397514394

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514394(A;A)
Make rs397514394(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644788
GeneBTD
is asnp
is mentioned by
dbSNPrs397514394
ebirs397514394
HLIrs397514394
Exacrs397514394
Varsomers397514394
Maprs397514394
PheGenIrs397514394
hapmaprs397514394
1000 genomesrs397514394
hgdprs397514394
ensemblrs397514394
gopubmedrs397514394
geneviewrs397514394
scholarrs397514394
googlers397514394
pharmgkbrs397514394
gwascentralrs397514394
openSNPrs397514394
23andMers397514394
23andMe allrs397514394
SNP Nexus

SNPshotrs397514394
SNPdbers397514394
MSV3drs397514394
GWAS Ctlgrs397514394
Max Magnitude0
ClinVar
Risk rs397514394(A;A)
Alt rs397514394(A;A)
Reference rs397514394(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686295G>A
CLNSRC ARUP BTD
CLNACC RCV000021973.1,