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rs397514348

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514348(A;G)
Make rs397514348(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15635657
GeneBTD
is asnp
is mentioned by
dbSNPrs397514348
ebirs397514348
HLIrs397514348
Exacrs397514348
Varsomers397514348
Maprs397514348
PheGenIrs397514348
hapmaprs397514348
1000 genomesrs397514348
hgdprs397514348
ensemblrs397514348
gopubmedrs397514348
geneviewrs397514348
scholarrs397514348
googlers397514348
pharmgkbrs397514348
gwascentralrs397514348
openSNPrs397514348
23andMers397514348
23andMe allrs397514348
SNP Nexus

SNPshotrs397514348
SNPdbers397514348
MSV3drs397514348
GWAS Ctlgrs397514348
Max Magnitude0
ClinVar
Risk rs397514348(G;G)
Alt rs397514348(G;G)
Reference rs397514348(A;A)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15677164A>G
CLNSRC ARUP BTD
CLNACC RCV000021911.1,