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rs397514333

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514333(C;C)
Make rs397514333(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15635591
GeneBTD
is asnp
is mentioned by
dbSNPrs397514333
ebirs397514333
HLIrs397514333
Exacrs397514333
Varsomers397514333
Maprs397514333
PheGenIrs397514333
hapmaprs397514333
1000 genomesrs397514333
hgdprs397514333
ensemblrs397514333
gopubmedrs397514333
geneviewrs397514333
scholarrs397514333
googlers397514333
pharmgkbrs397514333
gwascentralrs397514333
openSNPrs397514333
23andMers397514333
23andMe allrs397514333
SNP Nexus

SNPshotrs397514333
SNPdbers397514333
MSV3drs397514333
GWAS Ctlgrs397514333
Max Magnitude0
ClinVar
Risk rs397514333(C;C)
Alt rs397514333(C;C)
Reference rs397514333(T;T)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15677098T>C
CLNSRC ARUP BTD
CLNACC RCV000021886.1, RCV000021900.1, RCV000021901.1,