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rs794729196

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794729196(-;-)
Make rs794729196(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position193644008
GeneOPA1
is asnp
is mentioned by
dbSNPrs794729196
dbSNP (old)rs794729196
ClinGenrs794729196
ebirs794729196
HLIrs794729196
Exacrs794729196
Varsomers794729196
Maprs794729196
PheGenIrs794729196
Biobankrs794729196
1000 genomesrs794729196
hgdprs794729196
ensemblrs794729196
gopubmedrs794729196
geneviewrs794729196
scholarrs794729196
googlers794729196
pharmgkbrs794729196
gwascentralrs794729196
openSNPrs794729196
23andMers794729196
23andMe allrs794729196
SNP Nexus

SNPshotrs794729196
SNPdbers794729196
MSV3drs794729196
GWAS Ctlgrs794729196
Max Magnitude0
ClinVar
Risk rs794729196(-;-)
Alt rs794729196(-;-)
Reference Rs794729196(C;C)
Significance Probable-Pathogenic
Disease Autosomal dominant optic atrophy plus syndrome
Variation info
Gene OPA1
CLNDBN Autosomal dominant optic atrophy plus syndrome
Reversed 0
HGVS NC_000003.11:g.193361797delC
CLNSRC
CLNACC RCV000184014.1,