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rs397514353

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514353(A;G)
Make rs397514353(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15641954
GeneBTD
is asnp
is mentioned by
dbSNPrs397514353
ebirs397514353
HLIrs397514353
Exacrs397514353
Varsomers397514353
Maprs397514353
PheGenIrs397514353
hapmaprs397514353
1000 genomesrs397514353
hgdprs397514353
ensemblrs397514353
gopubmedrs397514353
geneviewrs397514353
scholarrs397514353
googlers397514353
pharmgkbrs397514353
gwascentralrs397514353
openSNPrs397514353
23andMers397514353
23andMe allrs397514353
SNP Nexus

SNPshotrs397514353
SNPdbers397514353
MSV3drs397514353
GWAS Ctlgrs397514353
Max Magnitude0
ClinVar
Risk rs397514353(G;G)
Alt rs397514353(G;G)
Reference rs397514353(A;A)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15683461A>G
CLNSRC ARUP BTD
CLNACC RCV000021919.1,