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rs397514415

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514415(A;G)
Make rs397514415(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645169
GeneBTD
is asnp
is mentioned by
dbSNPrs397514415
ebirs397514415
HLIrs397514415
Exacrs397514415
Varsomers397514415
Maprs397514415
PheGenIrs397514415
hapmaprs397514415
1000 genomesrs397514415
hgdprs397514415
ensemblrs397514415
gopubmedrs397514415
geneviewrs397514415
scholarrs397514415
googlers397514415
pharmgkbrs397514415
gwascentralrs397514415
openSNPrs397514415
23andMers397514415
23andMe allrs397514415
SNP Nexus

SNPshotrs397514415
SNPdbers397514415
MSV3drs397514415
GWAS Ctlgrs397514415
Max Magnitude0
ClinVar
Risk rs397514415(G;G)
Alt rs397514415(G;G)
Reference rs397514415(A;A)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686676A>G
CLNSRC ARUP BTD
CLNACC RCV000022004.1,