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rs28939082

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28939082(A;A)
Make rs28939082(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position193637980
GeneOPA1
is asnp
is mentioned by
dbSNPrs28939082
ebirs28939082
HLIrs28939082
Exacrs28939082
Varsomers28939082
Maprs28939082
PheGenIrs28939082
hapmaprs28939082
1000 genomesrs28939082
hgdprs28939082
ensemblrs28939082
gopubmedrs28939082
geneviewrs28939082
scholarrs28939082
googlers28939082
pharmgkbrs28939082
gwascentralrs28939082
openSNPrs28939082
23andMers28939082
23andMe allrs28939082
SNP Nexus

SNPshotrs28939082
SNPdbers28939082
MSV3drs28939082
GWAS Ctlgrs28939082
Max Magnitude0
OMIM605290
DescOPTIC ATROPHY 1
Variant0001
Relatedalso


ClinVar
Risk rs28939082(A;A)
Alt rs28939082(A;A)
Reference rs28939082(G;G)
Significance Pathogenic
Disease Dominant hereditary optic atrophy
Variation info
Gene OPA1
CLNDBN Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193355769G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005385.2,