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rs397514402

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514402(G;T)
Make rs397514402(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645190
GeneBTD
is asnp
is mentioned by
dbSNPrs397514402
ebirs397514402
HLIrs397514402
Exacrs397514402
Varsomers397514402
Maprs397514402
PheGenIrs397514402
hapmaprs397514402
1000 genomesrs397514402
hgdprs397514402
ensemblrs397514402
gopubmedrs397514402
geneviewrs397514402
scholarrs397514402
googlers397514402
pharmgkbrs397514402
gwascentralrs397514402
openSNPrs397514402
23andMers397514402
23andMe allrs397514402
SNP Nexus

SNPshotrs397514402
SNPdbers397514402
MSV3drs397514402
GWAS Ctlgrs397514402
Max Magnitude0
ClinVar
Risk rs397514402(T;T)
Alt rs397514402(T;T)
Reference rs397514402(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686697G>T
CLNSRC ARUP BTD
CLNACC RCV000021985.1, RCV000022007.1,