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rs28937899

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0.3 common in clinvar
(C;G) 2
(G;G) 3
ReferenceGRCh38 38.1/141
Chromosome19
Position45553639
GeneOPA3
is asnp
is mentioned by
dbSNPrs28937899
ebirs28937899
HLIrs28937899
Exacrs28937899
Varsomers28937899
Maprs28937899
PheGenIrs28937899
hapmaprs28937899
1000 genomesrs28937899
hgdprs28937899
ensemblrs28937899
gopubmedrs28937899
geneviewrs28937899
scholarrs28937899
googlers28937899
pharmgkbrs28937899
gwascentralrs28937899
openSNPrs28937899
23andMers28937899
23andMe allrs28937899
SNP Nexus

SNPshotrs28937899
SNPdbers28937899
MSV3drs28937899
GWAS Ctlgrs28937899
Max Magnitude3
OMIM606580
DescOPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
Variant0003
Relatedalso
Neighborrs28937898
Distance36
OMIM258501
Desc
Variant
Relatedalso


ClinVar
Risk rs28937899(T;T)
Alt rs28937899(T;T)
Reference rs28937899(C;C)
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.46056897G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020909.1,



[PMID 18985435] Costeff optic atrophy syndrome: new clinical case and novel molecular findings.