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rs863225274

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863225274(A;A)
Make rs863225274(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position193635467
GeneOPA1
is asnp
is mentioned by
dbSNPrs863225274
dbSNP (classic)rs863225274
ClinGenrs863225274
ebirs863225274
HLIrs863225274
Exacrs863225274
Gnomadrs863225274
Varsomers863225274
LitVarrs863225274
Maprs863225274
PheGenIrs863225274
Biobankrs863225274
1000 genomesrs863225274
hgdprs863225274
ensemblrs863225274
geneviewrs863225274
scholarrs863225274
googlers863225274
pharmgkbrs863225274
gwascentralrs863225274
openSNPrs863225274
23andMers863225274
SNPshotrs863225274
SNPdbers863225274
MSV3drs863225274
GWAS Ctlgrs863225274
Max Magnitude0
ClinVar
Risk rs863225274(A;A)
Alt rs863225274(A;A)
Reference Rs863225274(T;T)
Significance Pathogenic
Disease Dominant hereditary optic atrophy
Variation info
Gene OPA1
CLNDBN Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193353256T>A
CLNSRC
CLNACC RCV000201902.1,