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rs397514378

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514378(C;C)
Make rs397514378(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644508
GeneBTD
is asnp
is mentioned by
dbSNPrs397514378
ebirs397514378
HLIrs397514378
Exacrs397514378
Varsomers397514378
Maprs397514378
PheGenIrs397514378
hapmaprs397514378
1000 genomesrs397514378
hgdprs397514378
ensemblrs397514378
gopubmedrs397514378
geneviewrs397514378
scholarrs397514378
googlers397514378
pharmgkbrs397514378
gwascentralrs397514378
openSNPrs397514378
23andMers397514378
23andMe allrs397514378
SNP Nexus

SNPshotrs397514378
SNPdbers397514378
MSV3drs397514378
GWAS Ctlgrs397514378
Max Magnitude0
ClinVar
Risk rs397514378(C;C)
Alt rs397514378(C;C)
Reference rs397514378(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686015G>C
CLNSRC ARUP BTD
CLNACC RCV000021955.1,