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rs397514436

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514436(C;C)
Make rs397514436(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15635571
GeneBTD
is asnp
is mentioned by
dbSNPrs397514436
ebirs397514436
HLIrs397514436
Exacrs397514436
Varsomers397514436
Maprs397514436
PheGenIrs397514436
hapmaprs397514436
1000 genomesrs397514436
hgdprs397514436
ensemblrs397514436
gopubmedrs397514436
geneviewrs397514436
scholarrs397514436
googlers397514436
pharmgkbrs397514436
gwascentralrs397514436
openSNPrs397514436
23andMers397514436
23andMe allrs397514436
SNP Nexus

SNPshotrs397514436
SNPdbers397514436
MSV3drs397514436
GWAS Ctlgrs397514436
Max Magnitude0
ClinVar
Risk rs397514436(C;C)
Alt rs397514436(C;C)
Reference rs397514436(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15677078G>C
CLNSRC ARUP BTD
CLNACC RCV000032017.1,