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rs397514437

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514437(G;G)
Make rs397514437(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644374
GeneBTD
is asnp
is mentioned by
dbSNPrs397514437
ebirs397514437
HLIrs397514437
Exacrs397514437
Varsomers397514437
Maprs397514437
PheGenIrs397514437
hapmaprs397514437
1000 genomesrs397514437
hgdprs397514437
ensemblrs397514437
gopubmedrs397514437
geneviewrs397514437
scholarrs397514437
googlers397514437
pharmgkbrs397514437
gwascentralrs397514437
openSNPrs397514437
23andMers397514437
23andMe allrs397514437
SNP Nexus

SNPshotrs397514437
SNPdbers397514437
MSV3drs397514437
GWAS Ctlgrs397514437
Max Magnitude0
ClinVar
Risk rs397514437(G;G)
Alt rs397514437(G;G)
Reference rs397514437(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15685881T>G
CLNSRC ARUP BTD
CLNACC RCV000032018.1,