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rs397514440

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397514440(-;-)
Make rs397514440(-;G)
Make rs397514440(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645250
GeneBTD
is asnp
is mentioned by
dbSNPrs397514440
ebirs397514440
HLIrs397514440
Exacrs397514440
Varsomers397514440
Maprs397514440
PheGenIrs397514440
hapmaprs397514440
1000 genomesrs397514440
hgdprs397514440
ensemblrs397514440
gopubmedrs397514440
geneviewrs397514440
scholarrs397514440
googlers397514440
pharmgkbrs397514440
gwascentralrs397514440
openSNPrs397514440
23andMers397514440
23andMe allrs397514440
SNP Nexus

SNPshotrs397514440
SNPdbers397514440
MSV3drs397514440
GWAS Ctlgrs397514440
Max Magnitude0
ClinVar
Risk rs397514440(G;G)
Alt rs397514440(G;G)
Reference rs397514440(;)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686757dupG
CLNSRC ClinVar
CLNACC RCV000032023.1,