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rs397514386

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514386(G;G)
Make rs397514386(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644789
GeneBTD
is asnp
is mentioned by
dbSNPrs397514386
ebirs397514386
HLIrs397514386
Exacrs397514386
Varsomers397514386
Maprs397514386
PheGenIrs397514386
hapmaprs397514386
1000 genomesrs397514386
hgdprs397514386
ensemblrs397514386
gopubmedrs397514386
geneviewrs397514386
scholarrs397514386
googlers397514386
pharmgkbrs397514386
gwascentralrs397514386
openSNPrs397514386
23andMers397514386
23andMe allrs397514386
SNP Nexus

SNPshotrs397514386
SNPdbers397514386
MSV3drs397514386
GWAS Ctlgrs397514386
Max Magnitude0
ClinVar
Risk rs397514386(G;G)
Alt rs397514386(G;G)
Reference rs397514386(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686296T>G
CLNSRC ARUP BTD
CLNACC RCV000021964.1, RCV000021975.1,