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rs727504059

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504059(A;A)
Make rs727504059(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position193637282
GeneOPA1
is asnp
is mentioned by
dbSNPrs727504059
dbSNP (classic)rs727504059
ClinGenrs727504059
ebirs727504059
HLIrs727504059
Exacrs727504059
Gnomadrs727504059
Varsomers727504059
LitVarrs727504059
Maprs727504059
PheGenIrs727504059
Biobankrs727504059
1000 genomesrs727504059
hgdprs727504059
ensemblrs727504059
geneviewrs727504059
scholarrs727504059
googlers727504059
pharmgkbrs727504059
gwascentralrs727504059
openSNPrs727504059
23andMers727504059
SNPshotrs727504059
SNPdbers727504059
MSV3drs727504059
GWAS Ctlgrs727504059
Max Magnitude0
ClinVar
Risk rs727504059(A;A)
Alt rs727504059(A;A)
Reference Rs727504059(G;G)
Significance Pathogenic
Disease not provided Dominant hereditary optic atrophy
Variation info
Gene OPA1
CLNDBN not provided Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193355071G>A
CLNSRC
CLNACC RCV000153619.2, RCV000180336.2,