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rs397514396

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514396(A;A)
Make rs397514396(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644790
GeneBTD
is asnp
is mentioned by
dbSNPrs397514396
ebirs397514396
HLIrs397514396
Exacrs397514396
Varsomers397514396
Maprs397514396
PheGenIrs397514396
hapmaprs397514396
1000 genomesrs397514396
hgdprs397514396
ensemblrs397514396
gopubmedrs397514396
geneviewrs397514396
scholarrs397514396
googlers397514396
pharmgkbrs397514396
gwascentralrs397514396
openSNPrs397514396
23andMers397514396
23andMe allrs397514396
SNP Nexus

SNPshotrs397514396
SNPdbers397514396
MSV3drs397514396
GWAS Ctlgrs397514396
Max Magnitude0
ClinVar
Risk rs397514396(A;A)
Alt rs397514396(A;A)
Reference rs397514396(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686297G>A
CLNSRC ARUP BTD
CLNACC RCV000021976.1,