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rs863225275

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225275(-;TT)
Make rs863225275(TT;TT)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position193642977
GeneOPA1
is asnp
is mentioned by
dbSNPrs863225275
dbSNP (old)rs863225275
ClinGenrs863225275
ebirs863225275
HLIrs863225275
Exacrs863225275
Varsomers863225275
Maprs863225275
PheGenIrs863225275
Biobankrs863225275
1000 genomesrs863225275
hgdprs863225275
ensemblrs863225275
gopubmedrs863225275
geneviewrs863225275
scholarrs863225275
googlers863225275
pharmgkbrs863225275
gwascentralrs863225275
openSNPrs863225275
23andMers863225275
23andMe allrs863225275
SNP Nexus

SNPshotrs863225275
SNPdbers863225275
MSV3drs863225275
GWAS Ctlgrs863225275
Max Magnitude0
ClinVar
Risk rs863225275(TT;TT)
Alt rs863225275(TT;TT)
Reference Rs863225275(-;-)
Significance Pathogenic
Disease Dominant hereditary optic atrophy
Variation info
Gene OPA1
CLNDBN Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193360765_193360766dupTT
CLNSRC
CLNACC RCV000201881.1,