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rs80356528

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356528(G;T)
Make rs80356528(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position193642846
GeneOPA1
is asnp
is mentioned by
dbSNPrs80356528
ebirs80356528
HLIrs80356528
Exacrs80356528
Varsomers80356528
Maprs80356528
PheGenIrs80356528
hapmaprs80356528
1000 genomesrs80356528
hgdprs80356528
ensemblrs80356528
gopubmedrs80356528
geneviewrs80356528
scholarrs80356528
googlers80356528
pharmgkbrs80356528
gwascentralrs80356528
openSNPrs80356528
23andMers80356528
23andMe allrs80356528
SNP Nexus

SNPshotrs80356528
SNPdbers80356528
MSV3drs80356528
GWAS Ctlgrs80356528
Max Magnitude0
ClinVar
Risk rs80356528(T;T)
Alt rs80356528(T;T)
Reference rs80356528(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.193360635G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020717.1,