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rs397514412

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514412(C;C)
Make rs397514412(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645123
GeneBTD
is asnp
is mentioned by
dbSNPrs397514412
ebirs397514412
HLIrs397514412
Exacrs397514412
Varsomers397514412
Maprs397514412
PheGenIrs397514412
hapmaprs397514412
1000 genomesrs397514412
hgdprs397514412
ensemblrs397514412
gopubmedrs397514412
geneviewrs397514412
scholarrs397514412
googlers397514412
pharmgkbrs397514412
gwascentralrs397514412
openSNPrs397514412
23andMers397514412
23andMe allrs397514412
SNP Nexus

SNPshotrs397514412
SNPdbers397514412
MSV3drs397514412
GWAS Ctlgrs397514412
Max Magnitude0
ClinVar
Risk rs397514412(C;C)
Alt rs397514412(C;C)
Reference rs397514412(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686630T>C
CLNSRC ARUP BTD
CLNACC RCV000021998.1,