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rs863225276

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225276(A;A)
Make rs863225276(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position193643434
GeneOPA1
is asnp
is mentioned by
dbSNPrs863225276
dbSNP (classic)rs863225276
ClinGenrs863225276
ebirs863225276
HLIrs863225276
Exacrs863225276
Gnomadrs863225276
Varsomers863225276
LitVarrs863225276
Maprs863225276
PheGenIrs863225276
Biobankrs863225276
1000 genomesrs863225276
hgdprs863225276
ensemblrs863225276
geneviewrs863225276
scholarrs863225276
googlers863225276
pharmgkbrs863225276
gwascentralrs863225276
openSNPrs863225276
23andMers863225276
SNPshotrs863225276
SNPdbers863225276
MSV3drs863225276
GWAS Ctlgrs863225276
Max Magnitude0
ClinVar
Risk rs863225276(A;A)
Alt rs863225276(A;A)
Reference Rs863225276(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.193361223G>A
CLNSRC
CLNACC RCV000201900.1,