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rs397514347

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514347(C;C)
Make rs397514347(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15635627
GeneBTD
is asnp
is mentioned by
dbSNPrs397514347
ebirs397514347
HLIrs397514347
Exacrs397514347
Varsomers397514347
Maprs397514347
PheGenIrs397514347
hapmaprs397514347
1000 genomesrs397514347
hgdprs397514347
ensemblrs397514347
gopubmedrs397514347
geneviewrs397514347
scholarrs397514347
googlers397514347
pharmgkbrs397514347
gwascentralrs397514347
openSNPrs397514347
23andMers397514347
23andMe allrs397514347
SNP Nexus

SNPshotrs397514347
SNPdbers397514347
MSV3drs397514347
GWAS Ctlgrs397514347
Max Magnitude0
ClinVar
Risk rs397514347(C;C)
Alt rs397514347(C;C)
Reference rs397514347(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15677134T>C
CLNSRC ARUP BTD
CLNACC RCV000021909.1,