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rs397514397

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514397(-;-)
Make rs397514397(-;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644905
GeneBTD
is asnp
is mentioned by
dbSNPrs397514397
ebirs397514397
HLIrs397514397
Exacrs397514397
Varsomers397514397
Maprs397514397
PheGenIrs397514397
hapmaprs397514397
1000 genomesrs397514397
hgdprs397514397
ensemblrs397514397
gopubmedrs397514397
geneviewrs397514397
scholarrs397514397
googlers397514397
pharmgkbrs397514397
gwascentralrs397514397
openSNPrs397514397
23andMers397514397
23andMe allrs397514397
SNP Nexus

SNPshotrs397514397
SNPdbers397514397
MSV3drs397514397
GWAS Ctlgrs397514397
Max Magnitude0
ClinVar
Risk rs397514397(;)
Alt rs397514397(;)
Reference rs397514397(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686412delC
CLNSRC ClinVar
CLNACC RCV000021979.1,