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

rs397514376

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514376(A;T)
Make rs397514376(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644461
GeneBTD
is asnp
is mentioned by
dbSNPrs397514376
ebirs397514376
HLIrs397514376
Exacrs397514376
Varsomers397514376
Maprs397514376
PheGenIrs397514376
hapmaprs397514376
1000 genomesrs397514376
hgdprs397514376
ensemblrs397514376
gopubmedrs397514376
geneviewrs397514376
scholarrs397514376
googlers397514376
pharmgkbrs397514376
gwascentralrs397514376
openSNPrs397514376
23andMers397514376
23andMe allrs397514376
SNP Nexus

SNPshotrs397514376
SNPdbers397514376
MSV3drs397514376
GWAS Ctlgrs397514376
Max Magnitude0
ClinVar
Risk rs397514376(G,T;G,T)
Alt rs397514376(G,T;G,T)
Reference rs397514376(A;A)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15685968A>T
CLNSRC ARUP BTD
CLNACC RCV000021948.1,