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rs397514439

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397514439(-;-)
Make rs397514439(-;A)
Make rs397514439(A;A)
ReferenceGRCh38 38.1/141
Chromosome3
Position15642005
GeneBTD
is asnp
is mentioned by
dbSNPrs397514439
ebirs397514439
HLIrs397514439
Exacrs397514439
Varsomers397514439
Maprs397514439
PheGenIrs397514439
hapmaprs397514439
1000 genomesrs397514439
hgdprs397514439
ensemblrs397514439
gopubmedrs397514439
geneviewrs397514439
scholarrs397514439
googlers397514439
pharmgkbrs397514439
gwascentralrs397514439
openSNPrs397514439
23andMers397514439
23andMe allrs397514439
SNP Nexus

SNPshotrs397514439
SNPdbers397514439
MSV3drs397514439
GWAS Ctlgrs397514439
Max Magnitude0
ClinVar
Risk rs397514439(A;A)
Alt rs397514439(A;A)
Reference rs397514439(;)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15683512dupA
CLNSRC ClinVar
CLNACC RCV000032021.1,