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rs397514423

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514423(-;-)
Make rs397514423(-;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645315
GeneBTD
is asnp
is mentioned by
dbSNPrs397514423
ebirs397514423
HLIrs397514423
Exacrs397514423
Varsomers397514423
Maprs397514423
PheGenIrs397514423
hapmaprs397514423
1000 genomesrs397514423
hgdprs397514423
ensemblrs397514423
gopubmedrs397514423
geneviewrs397514423
scholarrs397514423
googlers397514423
pharmgkbrs397514423
gwascentralrs397514423
openSNPrs397514423
23andMers397514423
23andMe allrs397514423
SNP Nexus

SNPshotrs397514423
SNPdbers397514423
MSV3drs397514423
GWAS Ctlgrs397514423
Max Magnitude0
ClinVar
Risk rs397514423(;)
Alt rs397514423(;)
Reference rs397514423(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686822delT
CLNSRC ClinVar
CLNACC RCV000022017.1,