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rs397514426

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514426(A;A)
Make rs397514426(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645367
GeneBTD
is asnp
is mentioned by
dbSNPrs397514426
ebirs397514426
HLIrs397514426
Exacrs397514426
Varsomers397514426
Maprs397514426
PheGenIrs397514426
hapmaprs397514426
1000 genomesrs397514426
hgdprs397514426
ensemblrs397514426
gopubmedrs397514426
geneviewrs397514426
scholarrs397514426
googlers397514426
pharmgkbrs397514426
gwascentralrs397514426
openSNPrs397514426
23andMers397514426
23andMe allrs397514426
SNP Nexus

SNPshotrs397514426
SNPdbers397514426
MSV3drs397514426
GWAS Ctlgrs397514426
Max Magnitude0
ClinVar
Risk rs397514426(A;A)
Alt rs397514426(A;A)
Reference rs397514426(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686874T>A
CLNSRC ARUP BTD
CLNACC RCV000022021.1,