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rs397514362

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514362(C;T)
Make rs397514362(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644322
GeneBTD
is asnp
is mentioned by
dbSNPrs397514362
ebirs397514362
HLIrs397514362
Exacrs397514362
Varsomers397514362
Maprs397514362
PheGenIrs397514362
hapmaprs397514362
1000 genomesrs397514362
hgdprs397514362
ensemblrs397514362
gopubmedrs397514362
geneviewrs397514362
scholarrs397514362
googlers397514362
pharmgkbrs397514362
gwascentralrs397514362
openSNPrs397514362
23andMers397514362
23andMe allrs397514362
SNP Nexus

SNPshotrs397514362
SNPdbers397514362
MSV3drs397514362
GWAS Ctlgrs397514362
Max Magnitude0
ClinVar
Risk rs397514362(T;T)
Alt rs397514362(T;T)
Reference rs397514362(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15685829C>T
CLNSRC ARUP BTD
CLNACC RCV000021930.1,