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rs397514434

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514434(A;A)
Make rs397514434(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645014
GeneBTD
is asnp
is mentioned by
dbSNPrs397514434
ebirs397514434
HLIrs397514434
Exacrs397514434
Varsomers397514434
Maprs397514434
PheGenIrs397514434
hapmaprs397514434
1000 genomesrs397514434
hgdprs397514434
ensemblrs397514434
gopubmedrs397514434
geneviewrs397514434
scholarrs397514434
googlers397514434
pharmgkbrs397514434
gwascentralrs397514434
openSNPrs397514434
23andMers397514434
23andMe allrs397514434
SNP Nexus

SNPshotrs397514434
SNPdbers397514434
MSV3drs397514434
GWAS Ctlgrs397514434
Max Magnitude0
ClinVar
Risk rs397514434(A;A)
Alt rs397514434(A;A)
Reference rs397514434(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686521G>A
CLNSRC ARUP BTD
CLNACC RCV000032015.1,