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rs397514413

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514413(C;C)
Make rs397514413(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645124
GeneBTD
is asnp
is mentioned by
dbSNPrs397514413
ebirs397514413
HLIrs397514413
Exacrs397514413
Varsomers397514413
Maprs397514413
PheGenIrs397514413
hapmaprs397514413
1000 genomesrs397514413
hgdprs397514413
ensemblrs397514413
gopubmedrs397514413
geneviewrs397514413
scholarrs397514413
googlers397514413
pharmgkbrs397514413
gwascentralrs397514413
openSNPrs397514413
23andMers397514413
23andMe allrs397514413
SNP Nexus

SNPshotrs397514413
SNPdbers397514413
MSV3drs397514413
GWAS Ctlgrs397514413
Max Magnitude0
ClinVar
Risk rs397514413(C;C)
Alt rs397514413(C;C)
Reference rs397514413(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686631G>C
CLNSRC ARUP BTD
CLNACC RCV000021999.1,