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rs794727289

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCTTAAAACT;TCTTAAAACT) 0 common in clinvar
Make rs794727289(-;-)
Make rs794727289(-;TTAAAACTTC)
Make rs794727289(TTAAAACTTC;TTAAAACTTC)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position193614982
GeneOPA1
is asnp
is mentioned by
dbSNPrs794727289
dbSNP (old)rs794727289
ClinGenrs794727289
ebirs794727289
HLIrs794727289
Exacrs794727289
Gnomadrs794727289
Varsomers794727289
Maprs794727289
PheGenIrs794727289
Biobankrs794727289
1000 genomesrs794727289
hgdprs794727289
ensemblrs794727289
gopubmedrs794727289
geneviewrs794727289
scholarrs794727289
googlers794727289
pharmgkbrs794727289
gwascentralrs794727289
openSNPrs794727289
23andMers794727289
23andMe allrs794727289
SNP Nexus

SNPshotrs794727289
SNPdbers794727289
MSV3drs794727289
GWAS Ctlgrs794727289
Max Magnitude0
ClinVar
Risk rs794727289(-;-)
Alt rs794727289(-;-)
Reference Rs794727289(TCTTAAAACT;TCTTAAAACT)
Significance Pathogenic
Disease Dominant hereditary optic atrophy
Variation info
Gene OPA1
CLNDBN Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193332771_193332780delTTAAAACTTC
CLNSRC
CLNACC RCV000175871.1,