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rs745927258

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs745927258(C;C)
Make rs745927258(C;G)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position193643050
GeneOPA1
is asnp
is mentioned by
dbSNPrs745927258
dbSNP (classic)rs745927258
ClinGenrs745927258
ebirs745927258
HLIrs745927258
Exacrs745927258
Gnomadrs745927258
Varsomers745927258
LitVarrs745927258
Maprs745927258
PheGenIrs745927258
Biobankrs745927258
1000 genomesrs745927258
hgdprs745927258
ensemblrs745927258
geneviewrs745927258
scholarrs745927258
googlers745927258
pharmgkbrs745927258
gwascentralrs745927258
openSNPrs745927258
23andMers745927258
SNPshotrs745927258
SNPdbers745927258
MSV3drs745927258
GWAS Ctlgrs745927258
Max Magnitude0
ClinVar
Risk rs745927258(A;A) rs745927258(C;C)
Alt rs745927258(A;A) rs745927258(C;C)
Reference Rs745927258(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.193360839G>A
CLNSRC
CLNACC RCV000379393.1,