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

rs397514387

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514387(G;G)
Make rs397514387(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644670
GeneBTD
is asnp
is mentioned by
dbSNPrs397514387
ebirs397514387
HLIrs397514387
Exacrs397514387
Varsomers397514387
Maprs397514387
PheGenIrs397514387
hapmaprs397514387
1000 genomesrs397514387
hgdprs397514387
ensemblrs397514387
gopubmedrs397514387
geneviewrs397514387
scholarrs397514387
googlers397514387
pharmgkbrs397514387
gwascentralrs397514387
openSNPrs397514387
23andMers397514387
23andMe allrs397514387
SNP Nexus

SNPshotrs397514387
SNPdbers397514387
MSV3drs397514387
GWAS Ctlgrs397514387
Max Magnitude0
ClinVar
Risk rs397514387(G;G)
Alt rs397514387(G;G)
Reference rs397514387(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686177T>G
CLNSRC ARUP BTD
CLNACC RCV000021965.1,