Have questions? Visit https://www.reddit.com/r/SNPedia

rs397514390

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514390(G;G)
Make rs397514390(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644692
GeneBTD
is asnp
is mentioned by
dbSNPrs397514390
ebirs397514390
HLIrs397514390
Exacrs397514390
Varsomers397514390
Maprs397514390
PheGenIrs397514390
hapmaprs397514390
1000 genomesrs397514390
hgdprs397514390
ensemblrs397514390
gopubmedrs397514390
geneviewrs397514390
scholarrs397514390
googlers397514390
pharmgkbrs397514390
gwascentralrs397514390
openSNPrs397514390
23andMers397514390
23andMe allrs397514390
SNP Nexus

SNPshotrs397514390
SNPdbers397514390
MSV3drs397514390
GWAS Ctlgrs397514390
Max Magnitude0
ClinVar
Risk rs397514390(G;G)
Alt rs397514390(G;G)
Reference rs397514390(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686199T>G
CLNSRC ARUP BTD
CLNACC RCV000021968.1,