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rs397514346

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTTGGAGCT;CTTGGAGCT) 0 common in clinvar
Make rs397514346(-;-)
Make rs397514346(-;CTTGGAGCT)
ReferenceGRCh38 38.1/141
Chromosome3
Position15635625
GeneBTD
is asnp
is mentioned by
dbSNPrs397514346
ebirs397514346
HLIrs397514346
Exacrs397514346
Varsomers397514346
Maprs397514346
PheGenIrs397514346
hapmaprs397514346
1000 genomesrs397514346
hgdprs397514346
ensemblrs397514346
gopubmedrs397514346
geneviewrs397514346
scholarrs397514346
googlers397514346
pharmgkbrs397514346
gwascentralrs397514346
openSNPrs397514346
23andMers397514346
23andMe allrs397514346
SNP Nexus

SNPshotrs397514346
SNPdbers397514346
MSV3drs397514346
GWAS Ctlgrs397514346
Max Magnitude0
ClinVar
Risk rs397514346(;)
Alt rs397514346(;)
Reference rs397514346(CTTGGAGCT;CTTGGAGCT)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15677132_15677140delCTTGGAGCT
CLNSRC ClinVar
CLNACC RCV000021908.1,