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rs397514408

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514408(C;C)
Make rs397514408(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645108
GeneBTD
is asnp
is mentioned by
dbSNPrs397514408
ebirs397514408
HLIrs397514408
Exacrs397514408
Varsomers397514408
Maprs397514408
PheGenIrs397514408
hapmaprs397514408
1000 genomesrs397514408
hgdprs397514408
ensemblrs397514408
gopubmedrs397514408
geneviewrs397514408
scholarrs397514408
googlers397514408
pharmgkbrs397514408
gwascentralrs397514408
openSNPrs397514408
23andMers397514408
23andMe allrs397514408
SNP Nexus

SNPshotrs397514408
SNPdbers397514408
MSV3drs397514408
GWAS Ctlgrs397514408
Max Magnitude0
ClinVar
Risk rs397514408(C;C)
Alt rs397514408(C;C)
Reference rs397514408(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686615T>C
CLNSRC ARUP BTD
CLNACC RCV000021994.1,