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rs397514417

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514417(A;A)
Make rs397514417(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645189
GeneBTD
is asnp
is mentioned by
dbSNPrs397514417
ebirs397514417
HLIrs397514417
Exacrs397514417
Varsomers397514417
Maprs397514417
PheGenIrs397514417
hapmaprs397514417
1000 genomesrs397514417
hgdprs397514417
ensemblrs397514417
gopubmedrs397514417
geneviewrs397514417
scholarrs397514417
googlers397514417
pharmgkbrs397514417
gwascentralrs397514417
openSNPrs397514417
23andMers397514417
23andMe allrs397514417
SNP Nexus

SNPshotrs397514417
SNPdbers397514417
MSV3drs397514417
GWAS Ctlgrs397514417
Max Magnitude0
ClinVar
Risk rs397514417(A;A)
Alt rs397514417(A;A)
Reference rs397514417(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686696G>A
CLNSRC ARUP BTD
CLNACC RCV000022006.1,