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rs397514418

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514418(C;T)
Make rs397514418(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645195
GeneBTD
is asnp
is mentioned by
dbSNPrs397514418
ebirs397514418
HLIrs397514418
Exacrs397514418
Varsomers397514418
Maprs397514418
PheGenIrs397514418
hapmaprs397514418
1000 genomesrs397514418
hgdprs397514418
ensemblrs397514418
gopubmedrs397514418
geneviewrs397514418
scholarrs397514418
googlers397514418
pharmgkbrs397514418
gwascentralrs397514418
openSNPrs397514418
23andMers397514418
23andMe allrs397514418
SNP Nexus

SNPshotrs397514418
SNPdbers397514418
MSV3drs397514418
GWAS Ctlgrs397514418
Max Magnitude0
ClinVar
Risk rs397514418(T;T)
Alt rs397514418(T;T)
Reference rs397514418(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686702C>T
CLNSRC ARUP BTD
CLNACC RCV000022008.1,