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rs397514435

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTATCTCCACGT;CTATCTCCACGT) 0 common in clinvar
(TATCTCCACGTC;TATCTCCACGTC) 0 common in clinvar
Make rs397514435(-;-)
Make rs397514435(-;TATCTCCACGTC)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645096
GeneBTD
is asnp
is mentioned by
dbSNPrs397514435
ebirs397514435
HLIrs397514435
Exacrs397514435
Varsomers397514435
Maprs397514435
PheGenIrs397514435
hapmaprs397514435
1000 genomesrs397514435
hgdprs397514435
ensemblrs397514435
gopubmedrs397514435
geneviewrs397514435
scholarrs397514435
googlers397514435
pharmgkbrs397514435
gwascentralrs397514435
openSNPrs397514435
23andMers397514435
23andMe allrs397514435
SNP Nexus

SNPshotrs397514435
SNPdbers397514435
MSV3drs397514435
GWAS Ctlgrs397514435
Max Magnitude0
ClinVar
Risk rs397514435(;)
Alt rs397514435(;)
Reference rs397514435(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,