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rs879255511

From SNPedia

Orientationplus
Geno Mag Summary
(CAT;CAT) 0 common in clinvar
Make rs879255511(-;-)
Make rs879255511(-;CAT)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position193643611
GeneOPA1
is asnp
is mentioned by
dbSNPrs879255511
ebirs879255511
HLIrs879255511
Exacrs879255511
Varsomers879255511
Maprs879255511
PheGenIrs879255511
hapmaprs879255511
1000 genomesrs879255511
hgdprs879255511
ensemblrs879255511
gopubmedrs879255511
geneviewrs879255511
scholarrs879255511
googlers879255511
pharmgkbrs879255511
gwascentralrs879255511
openSNPrs879255511
23andMers879255511
23andMe allrs879255511
SNP Nexus

SNPshotrs879255511
SNPdbers879255511
MSV3drs879255511
GWAS Ctlgrs879255511
Max Magnitude0
ClinVar
Risk rs879255511(;)
Alt rs879255511(;)
Reference rs879255511(CAT;CAT)
Significance Pathogenic
Disease Dominant hereditary optic atrophy
Variation info
Gene OPA1
CLNDBN Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193361400_193361402delCAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000005391.3,