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rs397514420

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514420(-;-)
Make rs397514420(-;A)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645240
GeneBTD
is asnp
is mentioned by
dbSNPrs397514420
ebirs397514420
HLIrs397514420
Exacrs397514420
Varsomers397514420
Maprs397514420
PheGenIrs397514420
hapmaprs397514420
1000 genomesrs397514420
hgdprs397514420
ensemblrs397514420
gopubmedrs397514420
geneviewrs397514420
scholarrs397514420
googlers397514420
pharmgkbrs397514420
gwascentralrs397514420
openSNPrs397514420
23andMers397514420
23andMe allrs397514420
SNP Nexus

SNPshotrs397514420
SNPdbers397514420
MSV3drs397514420
GWAS Ctlgrs397514420
Max Magnitude0
ClinVar
Risk rs397514420(;)
Alt rs397514420(;)
Reference rs397514420(A;A)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686747delA
CLNSRC ClinVar
CLNACC RCV000022011.1,