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rs397514401

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514401(A;A)
Make rs397514401(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645013
GeneBTD
is asnp
is mentioned by
dbSNPrs397514401
ebirs397514401
HLIrs397514401
Exacrs397514401
Varsomers397514401
Maprs397514401
PheGenIrs397514401
hapmaprs397514401
1000 genomesrs397514401
hgdprs397514401
ensemblrs397514401
gopubmedrs397514401
geneviewrs397514401
scholarrs397514401
googlers397514401
pharmgkbrs397514401
gwascentralrs397514401
openSNPrs397514401
23andMers397514401
23andMe allrs397514401
SNP Nexus

SNPshotrs397514401
SNPdbers397514401
MSV3drs397514401
GWAS Ctlgrs397514401
Max Magnitude0
ClinVar
Risk rs397514401(A;A)
Alt rs397514401(A;A)
Reference rs397514401(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686520G>A
CLNSRC ARUP BTD
CLNACC RCV000021983.1,