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rs397514429

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514429(A;A)
Make rs397514429(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645469
GeneBTD
is asnp
is mentioned by
dbSNPrs397514429
ebirs397514429
HLIrs397514429
Exacrs397514429
Varsomers397514429
Maprs397514429
PheGenIrs397514429
hapmaprs397514429
1000 genomesrs397514429
hgdprs397514429
ensemblrs397514429
gopubmedrs397514429
geneviewrs397514429
scholarrs397514429
googlers397514429
pharmgkbrs397514429
gwascentralrs397514429
openSNPrs397514429
23andMers397514429
23andMe allrs397514429
SNP Nexus

SNPshotrs397514429
SNPdbers397514429
MSV3drs397514429
GWAS Ctlgrs397514429
Max Magnitude0
ClinVar
Risk rs397514429(A;A)
Alt rs397514429(A;A)
Reference rs397514429(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686976G>A
CLNSRC ARUP BTD
CLNACC RCV000022024.1,