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rs80338685

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338685(A;C)
Make rs80338685(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645224
GeneBTD
is asnp
is mentioned by
dbSNPrs80338685
ebirs80338685
HLIrs80338685
Exacrs80338685
Varsomers80338685
Maprs80338685
PheGenIrs80338685
hapmaprs80338685
1000 genomesrs80338685
hgdprs80338685
ensemblrs80338685
gopubmedrs80338685
geneviewrs80338685
scholarrs80338685
googlers80338685
pharmgkbrs80338685
gwascentralrs80338685
openSNPrs80338685
23andMers80338685
23andMe allrs80338685
SNP Nexus

SNPshotrs80338685
SNPdbers80338685
MSV3drs80338685
GWAS Ctlgrs80338685
GMAF0.0004591
Max Magnitude0
OMIM609019
Desc
Variant0007
Relatedalso
ClinVar
Risk rs80338685(C;C)
Alt rs80338685(C;C)
Reference rs80338685(A;A)
Significance Pathogenic
Disease Biotinidase deficiency not provided
Variation info
Gene BTD
CLNDBN Biotinidase deficiency not provided
Reversed 0
HGVS NC_000003.11:g.15686731A>C
CLNSRC ARUP BTD HGMD OMIM Allelic Variant
CLNACC RCV000001979.4, RCV000078065.5,


[PMID 9375914] Profound biotinidase deficiency in two asymptomatic adults.


[PMID 10400129] Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.


[PMID 10801053] Novel mutations cause biotinidase deficiency in Turkish children.