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rs397514393

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514393(A;A)
Make rs397514393(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644785
GeneBTD
is asnp
is mentioned by
dbSNPrs397514393
ebirs397514393
HLIrs397514393
Exacrs397514393
Varsomers397514393
Maprs397514393
PheGenIrs397514393
hapmaprs397514393
1000 genomesrs397514393
hgdprs397514393
ensemblrs397514393
gopubmedrs397514393
geneviewrs397514393
scholarrs397514393
googlers397514393
pharmgkbrs397514393
gwascentralrs397514393
openSNPrs397514393
23andMers397514393
23andMe allrs397514393
SNP Nexus

SNPshotrs397514393
SNPdbers397514393
MSV3drs397514393
GWAS Ctlgrs397514393
Max Magnitude0
ClinVar
Risk rs397514393(A;A)
Alt rs397514393(A;A)
Reference rs397514393(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686292G>A
CLNSRC ARUP BTD
CLNACC RCV000021972.1,