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rs397514352

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514352(C;C)
Make rs397514352(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15641932
GeneBTD
is asnp
is mentioned by
dbSNPrs397514352
ebirs397514352
HLIrs397514352
Exacrs397514352
Varsomers397514352
Maprs397514352
PheGenIrs397514352
hapmaprs397514352
1000 genomesrs397514352
hgdprs397514352
ensemblrs397514352
gopubmedrs397514352
geneviewrs397514352
scholarrs397514352
googlers397514352
pharmgkbrs397514352
gwascentralrs397514352
openSNPrs397514352
23andMers397514352
23andMe allrs397514352
SNP Nexus

SNPshotrs397514352
SNPdbers397514352
MSV3drs397514352
GWAS Ctlgrs397514352
Max Magnitude0
ClinVar
Risk rs397514352(A,C;A,C)
Alt rs397514352(A,C;A,C)
Reference rs397514352(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15683439G>A; NC_000003.11:g.15683439G>C
CLNSRC ARUP BTD
CLNACC RCV000021917.1, RCV000021916.1,