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

rs397514385

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514385(A;T)
Make rs397514385(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644650
GeneBTD
is asnp
is mentioned by
dbSNPrs397514385
ebirs397514385
HLIrs397514385
Exacrs397514385
Varsomers397514385
Maprs397514385
PheGenIrs397514385
hapmaprs397514385
1000 genomesrs397514385
hgdprs397514385
ensemblrs397514385
gopubmedrs397514385
geneviewrs397514385
scholarrs397514385
googlers397514385
pharmgkbrs397514385
gwascentralrs397514385
openSNPrs397514385
23andMers397514385
23andMe allrs397514385
SNP Nexus

SNPshotrs397514385
SNPdbers397514385
MSV3drs397514385
GWAS Ctlgrs397514385
Max Magnitude0
ClinVar
Risk rs397514385(T;T)
Alt rs397514385(T;T)
Reference rs397514385(A;A)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686157A>T
CLNSRC ARUP BTD
CLNACC RCV000021963.1, RCV000021964.1,