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rs879255513

From SNPedia

Orientationplus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs879255513(-;-)
Make rs879255513(-;GA)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position193692092
GeneOPA1
is asnp
is mentioned by
dbSNPrs879255513
ebirs879255513
HLIrs879255513
Exacrs879255513
Varsomers879255513
Maprs879255513
PheGenIrs879255513
hapmaprs879255513
1000 genomesrs879255513
hgdprs879255513
ensemblrs879255513
gopubmedrs879255513
geneviewrs879255513
scholarrs879255513
googlers879255513
pharmgkbrs879255513
gwascentralrs879255513
openSNPrs879255513
23andMers879255513
23andMe allrs879255513
SNP Nexus

SNPshotrs879255513
SNPdbers879255513
MSV3drs879255513
GWAS Ctlgrs879255513
Max Magnitude0
ClinVar
Risk rs879255513(;)
Alt rs879255513(;)
Reference rs879255513(GA;GA)
Significance Pathogenic
Disease Dominant hereditary optic atrophy Optic Atrophy Type 1
Variation info
Gene OPA1
CLNDBN Dominant hereditary optic atrophy Optic Atrophy Type 1
Reversed 0
HGVS NC_000003.11:g.193409881_193409882delGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000005397.2, RCV000023413.2,