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rs397514425

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397514425(-;-)
Make rs397514425(-;T)
Make rs397514425(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645349
GeneBTD
is asnp
is mentioned by
dbSNPrs397514425
ebirs397514425
HLIrs397514425
Exacrs397514425
Varsomers397514425
Maprs397514425
PheGenIrs397514425
hapmaprs397514425
1000 genomesrs397514425
hgdprs397514425
ensemblrs397514425
gopubmedrs397514425
geneviewrs397514425
scholarrs397514425
googlers397514425
pharmgkbrs397514425
gwascentralrs397514425
openSNPrs397514425
23andMers397514425
23andMe allrs397514425
SNP Nexus

SNPshotrs397514425
SNPdbers397514425
MSV3drs397514425
GWAS Ctlgrs397514425
Max Magnitude0
ClinVar
Risk rs397514425(T;T)
Alt rs397514425(T;T)
Reference rs397514425(;)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686856dupT
CLNSRC ClinVar
CLNACC RCV000022020.1,