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rs397514392

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514392(C;T)
Make rs397514392(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644752
GeneBTD
is asnp
is mentioned by
dbSNPrs397514392
ebirs397514392
HLIrs397514392
Exacrs397514392
Varsomers397514392
Maprs397514392
PheGenIrs397514392
hapmaprs397514392
1000 genomesrs397514392
hgdprs397514392
ensemblrs397514392
gopubmedrs397514392
geneviewrs397514392
scholarrs397514392
googlers397514392
pharmgkbrs397514392
gwascentralrs397514392
openSNPrs397514392
23andMers397514392
23andMe allrs397514392
SNP Nexus

SNPshotrs397514392
SNPdbers397514392
MSV3drs397514392
GWAS Ctlgrs397514392
Max Magnitude0
ClinVar
Risk rs397514392(T;T)
Alt rs397514392(T;T)
Reference rs397514392(C;C)
Significance Pathogenic
Disease Biotinidase deficiency not provided
Variation info
Gene BTD
CLNDBN Biotinidase deficiency not provided
Reversed 0
HGVS NC_000003.11:g.15686259C>T
CLNSRC ARUP BTD
CLNACC RCV000021971.1, RCV000185807.1,