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rs397514432

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514432(C;C)
Make rs397514432(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645483
GeneBTD
is asnp
is mentioned by
dbSNPrs397514432
ebirs397514432
HLIrs397514432
Exacrs397514432
Varsomers397514432
Maprs397514432
PheGenIrs397514432
hapmaprs397514432
1000 genomesrs397514432
hgdprs397514432
ensemblrs397514432
gopubmedrs397514432
geneviewrs397514432
scholarrs397514432
googlers397514432
pharmgkbrs397514432
gwascentralrs397514432
openSNPrs397514432
23andMers397514432
23andMe allrs397514432
SNP Nexus

SNPshotrs397514432
SNPdbers397514432
MSV3drs397514432
GWAS Ctlgrs397514432
Max Magnitude0
ClinVar
Risk rs397514432(C;C)
Alt rs397514432(C;C)
Reference rs397514432(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686990G>C
CLNSRC ARUP BTD
CLNACC RCV000022027.1,