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rs397514374

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514374(-;-)
Make rs397514374(-;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644450
GeneBTD
is asnp
is mentioned by
dbSNPrs397514374
ebirs397514374
HLIrs397514374
Exacrs397514374
Varsomers397514374
Maprs397514374
PheGenIrs397514374
hapmaprs397514374
1000 genomesrs397514374
hgdprs397514374
ensemblrs397514374
gopubmedrs397514374
geneviewrs397514374
scholarrs397514374
googlers397514374
pharmgkbrs397514374
gwascentralrs397514374
openSNPrs397514374
23andMers397514374
23andMe allrs397514374
SNP Nexus

SNPshotrs397514374
SNPdbers397514374
MSV3drs397514374
GWAS Ctlgrs397514374
Max Magnitude0
ClinVar
Risk rs397514374(;)
Alt rs397514374(;)
Reference rs397514374(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15685957delC
CLNSRC ClinVar
CLNACC RCV000021946.1,