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rs80356526

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGCAGCGCCACAAGGAGG;AGCAGCGCCACAAGGAGG) 0 common in complete genomics
(CAGCGCCACAAGGAGGAG;CAGCGCCACAAGGAGGAG) 0 common in clinvar
(GCAGCGCCACAAGGAGGA;GCAGCGCCACAAGGAGGA) 0 common in clinvar
Make rs80356526(-;-)
Make rs80356526(-;AGCAGCGCCACAAGGAGG)
ReferenceGRCh38 38.1/141
Chromosome19
Position45553717
GeneOPA3
is asnp
is mentioned by
dbSNPrs80356526
ebirs80356526
HLIrs80356526
Exacrs80356526
Varsomers80356526
Maprs80356526
PheGenIrs80356526
hapmaprs80356526
1000 genomesrs80356526
hgdprs80356526
ensemblrs80356526
gopubmedrs80356526
geneviewrs80356526
scholarrs80356526
googlers80356526
pharmgkbrs80356526
gwascentralrs80356526
openSNPrs80356526
23andMers80356526
23andMe allrs80356526
SNP Nexus

SNPshotrs80356526
SNPdbers80356526
MSV3drs80356526
GWAS Ctlgrs80356526
Max Magnitude0
OMIM606580
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80356526(;)
Alt rs80356526(;)
Reference rs80356526(CAGCGCCACAAGGAGGAG;CAGCGCCACAAGGAGGAG)
Significance Pathogenic
Disease 3-Methylglutaconic aciduria type 3
Variation info
Gene OPA3
CLNDBN 3-Methylglutaconic aciduria type 3
Reversed 1
HGVS NC_000019.9:g.46056975_46056992del18
CLNSRC OMIM Allelic Variant
CLNACC RCV000004464.2,


[PMID 12126933] 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.