Have questions? Visit https://www.reddit.com/r/SNPedia

rs143319805

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs143319805(A;G)
Make rs143319805(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position193643378
GeneOPA1
is asnp
is mentioned by
dbSNPrs143319805
ebirs143319805
HLIrs143319805
Exacrs143319805
Varsomers143319805
Maprs143319805
PheGenIrs143319805
hapmaprs143319805
1000 genomesrs143319805
hgdprs143319805
ensemblrs143319805
gopubmedrs143319805
geneviewrs143319805
scholarrs143319805
googlers143319805
pharmgkbrs143319805
gwascentralrs143319805
openSNPrs143319805
23andMers143319805
23andMe allrs143319805
SNP Nexus

SNPshotrs143319805
SNPdbers143319805
MSV3drs143319805
GWAS Ctlgrs143319805
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs143319805(G;G)
Alt rs143319805(G;G)
Reference rs143319805(A;A)
Significance Pathogenic
Disease Dominant hereditary optic atrophy not provided not specified Abortive cerebellar ataxia
Variation info
Gene OPA1
CLNDBN Dominant hereditary optic atrophy not provided not specified Abortive cerebellar ataxia
Reversed 0
HGVS NC_000003.11:g.193361167A>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000043607.3, RCV000081747.4, RCV000198140.2, RCV000210748.1,