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rs397514339

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514339(G;G)
Make rs397514339(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15635550
GeneBTD
is asnp
is mentioned by
dbSNPrs397514339
ebirs397514339
HLIrs397514339
Exacrs397514339
Varsomers397514339
Maprs397514339
PheGenIrs397514339
hapmaprs397514339
1000 genomesrs397514339
hgdprs397514339
ensemblrs397514339
gopubmedrs397514339
geneviewrs397514339
scholarrs397514339
googlers397514339
pharmgkbrs397514339
gwascentralrs397514339
openSNPrs397514339
23andMers397514339
23andMe allrs397514339
SNP Nexus

SNPshotrs397514339
SNPdbers397514339
MSV3drs397514339
GWAS Ctlgrs397514339
Max Magnitude0
ClinVar
Risk rs397514339(G;G)
Alt rs397514339(G;G)
Reference rs397514339(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15677057T>G
CLNSRC ARUP BTD
CLNACC RCV000021893.1,