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rs397514389

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514389(C;C)
Make rs397514389(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644689
GeneBTD
is asnp
is mentioned by
dbSNPrs397514389
ebirs397514389
HLIrs397514389
Exacrs397514389
Varsomers397514389
Maprs397514389
PheGenIrs397514389
hapmaprs397514389
1000 genomesrs397514389
hgdprs397514389
ensemblrs397514389
gopubmedrs397514389
geneviewrs397514389
scholarrs397514389
googlers397514389
pharmgkbrs397514389
gwascentralrs397514389
openSNPrs397514389
23andMers397514389
23andMe allrs397514389
SNP Nexus

SNPshotrs397514389
SNPdbers397514389
MSV3drs397514389
GWAS Ctlgrs397514389
Max Magnitude0
ClinVar
Risk rs397514389(C;C)
Alt rs397514389(C;C)
Reference rs397514389(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686196T>C
CLNSRC ARUP BTD
CLNACC RCV000021967.1,