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rs863224906

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224906(C;T)
Make rs863224906(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position193657197
GeneLOC102724808, OPA1
is asnp
is mentioned by
dbSNPrs863224906
dbSNP (classic)rs863224906
ClinGenrs863224906
ebirs863224906
HLIrs863224906
Exacrs863224906
Gnomadrs863224906
Varsomers863224906
LitVarrs863224906
Maprs863224906
PheGenIrs863224906
Biobankrs863224906
1000 genomesrs863224906
hgdprs863224906
ensemblrs863224906
geneviewrs863224906
scholarrs863224906
googlers863224906
pharmgkbrs863224906
gwascentralrs863224906
openSNPrs863224906
23andMers863224906
SNPshotrs863224906
SNPdbers863224906
MSV3drs863224906
GWAS Ctlgrs863224906
Max Magnitude0
ClinVar
Risk rs863224906(T;T)
Alt rs863224906(T;T)
Reference Rs863224906(C;C)
Significance Probable-Pathogenic
Disease Dominant hereditary optic atrophy
Variation info
Gene OPA1 LOC101929213
CLNDBN Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193374986C>T
CLNSRC
CLNACC RCV000199194.1,