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rs397514340

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514340(A;A)
Make rs397514340(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15635569
GeneBTD
is asnp
is mentioned by
dbSNPrs397514340
ebirs397514340
HLIrs397514340
Exacrs397514340
Varsomers397514340
Maprs397514340
PheGenIrs397514340
hapmaprs397514340
1000 genomesrs397514340
hgdprs397514340
ensemblrs397514340
gopubmedrs397514340
geneviewrs397514340
scholarrs397514340
googlers397514340
pharmgkbrs397514340
gwascentralrs397514340
openSNPrs397514340
23andMers397514340
23andMe allrs397514340
SNP Nexus

SNPshotrs397514340
SNPdbers397514340
MSV3drs397514340
GWAS Ctlgrs397514340
Max Magnitude0
ClinVar
Risk rs397514340(A;A)
Alt rs397514340(A;A)
Reference rs397514340(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15677076G>A
CLNSRC ARUP BTD
CLNACC RCV000021896.1,