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rs397514419

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514419(A;A)
Make rs397514419(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645208
GeneBTD
is asnp
is mentioned by
dbSNPrs397514419
ebirs397514419
HLIrs397514419
Exacrs397514419
Varsomers397514419
Maprs397514419
PheGenIrs397514419
hapmaprs397514419
1000 genomesrs397514419
hgdprs397514419
ensemblrs397514419
gopubmedrs397514419
geneviewrs397514419
scholarrs397514419
googlers397514419
pharmgkbrs397514419
gwascentralrs397514419
openSNPrs397514419
23andMers397514419
23andMe allrs397514419
SNP Nexus

SNPshotrs397514419
SNPdbers397514419
MSV3drs397514419
GWAS Ctlgrs397514419
Max Magnitude0
ClinVar
Risk rs397514419(A;A)
Alt rs397514419(A;A)
Reference rs397514419(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686715G>A
CLNSRC ARUP BTD
CLNACC RCV000022009.1,