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rs397514372

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514372(C;G)
Make rs397514372(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644443
GeneBTD
is asnp
is mentioned by
dbSNPrs397514372
ebirs397514372
HLIrs397514372
Exacrs397514372
Varsomers397514372
Maprs397514372
PheGenIrs397514372
hapmaprs397514372
1000 genomesrs397514372
hgdprs397514372
ensemblrs397514372
gopubmedrs397514372
geneviewrs397514372
scholarrs397514372
googlers397514372
pharmgkbrs397514372
gwascentralrs397514372
openSNPrs397514372
23andMers397514372
23andMe allrs397514372
SNP Nexus

SNPshotrs397514372
SNPdbers397514372
MSV3drs397514372
GWAS Ctlgrs397514372
Max Magnitude0
ClinVar
Risk rs397514372(G;G)
Alt rs397514372(G;G)
Reference rs397514372(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15685950C>G
CLNSRC ARUP BTD
CLNACC RCV000021944.1,