rs80356526

Orientation

minus

Stabilized

minus

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)

Reference

GRCh38 38.1/141

Chromosome

19

Position

45553717

Gene

OPA3

is a	snp
is	mentioned by
dbSNP	rs80356526
dbSNP (classic)	rs80356526
ClinGen	rs80356526
ebi	rs80356526
HLI	rs80356526
Exac	rs80356526
Gnomad	rs80356526
Varsome	rs80356526
LitVar	rs80356526
Map	rs80356526
PheGenI	rs80356526
Biobank	rs80356526
1000 genomes	rs80356526
hgdp	rs80356526
ensembl	rs80356526
geneview	rs80356526
scholar	rs80356526
google	rs80356526
pharmgkb	rs80356526
gwascentral	rs80356526
openSNP	rs80356526
23andMe	rs80356526
SNPshot	rs80356526
SNPdbe	rs80356526
MSV3d	rs80356526
GWAS Ctlg	rs80356526

Max Magnitude

0

OMIM	606580
Desc
Variant	0004
Related	also

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.