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rs138350727

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs138350727(G;T)
Make rs138350727(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position193626153
GeneOPA1, OPA1-AS1
is asnp
is mentioned by
dbSNPrs138350727
ebirs138350727
HLIrs138350727
Exacrs138350727
Varsomers138350727
Maprs138350727
PheGenIrs138350727
hapmaprs138350727
1000 genomesrs138350727
hgdprs138350727
ensemblrs138350727
gopubmedrs138350727
geneviewrs138350727
scholarrs138350727
googlers138350727
pharmgkbrs138350727
gwascentralrs138350727
openSNPrs138350727
23andMers138350727
23andMe allrs138350727
SNP Nexus

SNPshotrs138350727
SNPdbers138350727
MSV3drs138350727
GWAS Ctlgrs138350727
Max Magnitude0
ClinVar
Risk rs138350727(A,T;A,T)
Alt rs138350727(A,T;A,T)
Reference rs138350727(G;G)
Significance Pathogenic
Disease Dominant hereditary optic atrophy
Variation info
Gene OPA1 OPA1-AS1
CLNDBN Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193343942G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000055988.1,