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rs397514399

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514399(C;C)
Make rs397514399(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644952
GeneBTD
is asnp
is mentioned by
dbSNPrs397514399
ebirs397514399
HLIrs397514399
Exacrs397514399
Varsomers397514399
Maprs397514399
PheGenIrs397514399
hapmaprs397514399
1000 genomesrs397514399
hgdprs397514399
ensemblrs397514399
gopubmedrs397514399
geneviewrs397514399
scholarrs397514399
googlers397514399
pharmgkbrs397514399
gwascentralrs397514399
openSNPrs397514399
23andMers397514399
23andMe allrs397514399
SNP Nexus

SNPshotrs397514399
SNPdbers397514399
MSV3drs397514399
GWAS Ctlgrs397514399
Max Magnitude0
ClinVar
Risk rs397514399(C;C)
Alt rs397514399(C;C)
Reference rs397514399(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686459T>C
CLNSRC ARUP BTD
CLNACC RCV000021981.1,