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rs397514357

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514357(A;A)
Make rs397514357(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position15642022
GeneBTD
is asnp
is mentioned by
dbSNPrs397514357
ebirs397514357
HLIrs397514357
Exacrs397514357
Varsomers397514357
Maprs397514357
PheGenIrs397514357
hapmaprs397514357
1000 genomesrs397514357
hgdprs397514357
ensemblrs397514357
gopubmedrs397514357
geneviewrs397514357
scholarrs397514357
googlers397514357
pharmgkbrs397514357
gwascentralrs397514357
openSNPrs397514357
23andMers397514357
23andMe allrs397514357
SNP Nexus

SNPshotrs397514357
SNPdbers397514357
MSV3drs397514357
GWAS Ctlgrs397514357
Max Magnitude0
ClinVar
Risk rs397514357(A;A)
Alt rs397514357(A;A)
Reference rs397514357(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15683529C>A
CLNSRC ARUP BTD
CLNACC RCV000021923.1,