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rs397514404

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTATCTCCACGT;CTATCTCCACGT) 0 common in clinvar
Make rs397514404(-;-)
Make rs397514404(-;CTATCTCCACGT)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645095
GeneBTD
is asnp
is mentioned by
dbSNPrs397514404
ebirs397514404
HLIrs397514404
Exacrs397514404
Varsomers397514404
Maprs397514404
PheGenIrs397514404
hapmaprs397514404
1000 genomesrs397514404
hgdprs397514404
ensemblrs397514404
gopubmedrs397514404
geneviewrs397514404
scholarrs397514404
googlers397514404
pharmgkbrs397514404
gwascentralrs397514404
openSNPrs397514404
23andMers397514404
23andMe allrs397514404
SNP Nexus

SNPshotrs397514404
SNPdbers397514404
MSV3drs397514404
GWAS Ctlgrs397514404
Max Magnitude0
ClinVar
Risk rs397514404(;)
Alt rs397514404(;)
Reference rs397514404(CTATCTCCACGT;CTATCTCCACGT)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686604_15686615delATCTCCACGTCT
CLNSRC ClinVar
CLNACC RCV000032016.1,