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rs397514405

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514405(C;T)
Make rs397514405(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645067
GeneBTD
is asnp
is mentioned by
dbSNPrs397514405
ebirs397514405
HLIrs397514405
Exacrs397514405
Varsomers397514405
Maprs397514405
PheGenIrs397514405
hapmaprs397514405
1000 genomesrs397514405
hgdprs397514405
ensemblrs397514405
gopubmedrs397514405
geneviewrs397514405
scholarrs397514405
googlers397514405
pharmgkbrs397514405
gwascentralrs397514405
openSNPrs397514405
23andMers397514405
23andMe allrs397514405
SNP Nexus

SNPshotrs397514405
SNPdbers397514405
MSV3drs397514405
GWAS Ctlgrs397514405
Max Magnitude0
ClinVar
Risk rs397514405(T;T)
Alt rs397514405(T;T)
Reference rs397514405(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686574C>T
CLNSRC ARUP BTD
CLNACC RCV000021990.1,