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rs397514351

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514351(G;T)
Make rs397514351(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15641908
GeneBTD
is asnp
is mentioned by
dbSNPrs397514351
ebirs397514351
HLIrs397514351
Exacrs397514351
Varsomers397514351
Maprs397514351
PheGenIrs397514351
hapmaprs397514351
1000 genomesrs397514351
hgdprs397514351
ensemblrs397514351
gopubmedrs397514351
geneviewrs397514351
scholarrs397514351
googlers397514351
pharmgkbrs397514351
gwascentralrs397514351
openSNPrs397514351
23andMers397514351
23andMe allrs397514351
SNP Nexus

SNPshotrs397514351
SNPdbers397514351
MSV3drs397514351
GWAS Ctlgrs397514351
Max Magnitude0
ClinVar
Risk rs397514351(T;T)
Alt rs397514351(T;T)
Reference rs397514351(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15683415G>T
CLNSRC ARUP BTD
CLNACC RCV000021914.1,