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rs397514422

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514422(C;C)
Make rs397514422(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645315
GeneBTD
is asnp
is mentioned by
dbSNPrs397514422
ebirs397514422
HLIrs397514422
Exacrs397514422
Varsomers397514422
Maprs397514422
PheGenIrs397514422
hapmaprs397514422
1000 genomesrs397514422
hgdprs397514422
ensemblrs397514422
gopubmedrs397514422
geneviewrs397514422
scholarrs397514422
googlers397514422
pharmgkbrs397514422
gwascentralrs397514422
openSNPrs397514422
23andMers397514422
23andMe allrs397514422
SNP Nexus

SNPshotrs397514422
SNPdbers397514422
MSV3drs397514422
GWAS Ctlgrs397514422
Max Magnitude0
ClinVar
Risk rs397514422(C;C)
Alt rs397514422(C;C)
Reference rs397514422(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686822T>C
CLNSRC ARUP BTD
CLNACC RCV000022016.1,