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rs397514406

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514406(C;C)
Make rs397514406(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645070
GeneBTD
is asnp
is mentioned by
dbSNPrs397514406
ebirs397514406
HLIrs397514406
Exacrs397514406
Varsomers397514406
Maprs397514406
PheGenIrs397514406
hapmaprs397514406
1000 genomesrs397514406
hgdprs397514406
ensemblrs397514406
gopubmedrs397514406
geneviewrs397514406
scholarrs397514406
googlers397514406
pharmgkbrs397514406
gwascentralrs397514406
openSNPrs397514406
23andMers397514406
23andMe allrs397514406
SNP Nexus

SNPshotrs397514406
SNPdbers397514406
MSV3drs397514406
GWAS Ctlgrs397514406
Max Magnitude0
ClinVar
Risk rs397514406(C;C)
Alt rs397514406(C;C)
Reference rs397514406(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686577T>C
CLNSRC ARUP BTD
CLNACC RCV000021991.1,