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rs397514354

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514354(A;G)
Make rs397514354(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15641962
GeneBTD
is asnp
is mentioned by
dbSNPrs397514354
ebirs397514354
HLIrs397514354
Exacrs397514354
Varsomers397514354
Maprs397514354
PheGenIrs397514354
hapmaprs397514354
1000 genomesrs397514354
hgdprs397514354
ensemblrs397514354
gopubmedrs397514354
geneviewrs397514354
scholarrs397514354
googlers397514354
pharmgkbrs397514354
gwascentralrs397514354
openSNPrs397514354
23andMers397514354
23andMe allrs397514354
SNP Nexus

SNPshotrs397514354
SNPdbers397514354
MSV3drs397514354
GWAS Ctlgrs397514354
Max Magnitude0
ClinVar
Risk rs397514354(G;G)
Alt rs397514354(G;G)
Reference rs397514354(A;A)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15683469A>G
CLNSRC ARUP BTD
CLNACC RCV000021920.1,