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rs397514438

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514438(C;T)
Make rs397514438(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644614
GeneBTD
is asnp
is mentioned by
dbSNPrs397514438
ebirs397514438
HLIrs397514438
Exacrs397514438
Varsomers397514438
Maprs397514438
PheGenIrs397514438
hapmaprs397514438
1000 genomesrs397514438
hgdprs397514438
ensemblrs397514438
gopubmedrs397514438
geneviewrs397514438
scholarrs397514438
googlers397514438
pharmgkbrs397514438
gwascentralrs397514438
openSNPrs397514438
23andMers397514438
23andMe allrs397514438
SNP Nexus

SNPshotrs397514438
SNPdbers397514438
MSV3drs397514438
GWAS Ctlgrs397514438
Max Magnitude0
ClinVar
Risk rs397514438(T;T)
Alt rs397514438(T;T)
Reference rs397514438(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686121C>T
CLNSRC ARUP BTD
CLNACC RCV000032019.1,