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rs397514349

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514349(C;T)
Make rs397514349(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15635662
GeneBTD
is asnp
is mentioned by
dbSNPrs397514349
ebirs397514349
HLIrs397514349
Exacrs397514349
Varsomers397514349
Maprs397514349
PheGenIrs397514349
hapmaprs397514349
1000 genomesrs397514349
hgdprs397514349
ensemblrs397514349
gopubmedrs397514349
geneviewrs397514349
scholarrs397514349
googlers397514349
pharmgkbrs397514349
gwascentralrs397514349
openSNPrs397514349
23andMers397514349
23andMe allrs397514349
SNP Nexus

SNPshotrs397514349
SNPdbers397514349
MSV3drs397514349
GWAS Ctlgrs397514349
Max Magnitude0
ClinVar
Risk rs397514349(T;T)
Alt rs397514349(T;T)
Reference rs397514349(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15677169C>T
CLNSRC ARUP BTD
CLNACC RCV000021912.1,