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rs397514391

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514391(G;G)
Make rs397514391(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644743
GeneBTD
is asnp
is mentioned by
dbSNPrs397514391
ebirs397514391
HLIrs397514391
Exacrs397514391
Varsomers397514391
Maprs397514391
PheGenIrs397514391
hapmaprs397514391
1000 genomesrs397514391
hgdprs397514391
ensemblrs397514391
gopubmedrs397514391
geneviewrs397514391
scholarrs397514391
googlers397514391
pharmgkbrs397514391
gwascentralrs397514391
openSNPrs397514391
23andMers397514391
23andMe allrs397514391
SNP Nexus

SNPshotrs397514391
SNPdbers397514391
MSV3drs397514391
GWAS Ctlgrs397514391
Max Magnitude0
ClinVar
Risk rs397514391(G;G)
Alt rs397514391(G;G)
Reference rs397514391(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686250T>G
CLNSRC ARUP BTD
CLNACC RCV000021970.1,