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

rs397514343

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514343(A;A)
Make rs397514343(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15635615
GeneBTD
is asnp
is mentioned by
dbSNPrs397514343
ebirs397514343
HLIrs397514343
Exacrs397514343
Varsomers397514343
Maprs397514343
PheGenIrs397514343
hapmaprs397514343
1000 genomesrs397514343
hgdprs397514343
ensemblrs397514343
gopubmedrs397514343
geneviewrs397514343
scholarrs397514343
googlers397514343
pharmgkbrs397514343
gwascentralrs397514343
openSNPrs397514343
23andMers397514343
23andMe allrs397514343
SNP Nexus

SNPshotrs397514343
SNPdbers397514343
MSV3drs397514343
GWAS Ctlgrs397514343
Max Magnitude0
ClinVar
Risk rs397514343(A;A)
Alt rs397514343(A;A)
Reference rs397514343(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15677122G>A
CLNSRC ARUP BTD
CLNACC RCV000021901.1, RCV000021905.1,