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rs727504058

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727504058(A;A)
Make rs727504058(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position193617262
GeneOPA1
is asnp
is mentioned by
dbSNPrs727504058
ebirs727504058
HLIrs727504058
Exacrs727504058
Varsomers727504058
Maprs727504058
PheGenIrs727504058
hapmaprs727504058
1000 genomesrs727504058
hgdprs727504058
ensemblrs727504058
gopubmedrs727504058
geneviewrs727504058
scholarrs727504058
googlers727504058
pharmgkbrs727504058
gwascentralrs727504058
openSNPrs727504058
23andMers727504058
23andMe allrs727504058
SNP Nexus

SNPshotrs727504058
SNPdbers727504058
MSV3drs727504058
GWAS Ctlgrs727504058
Max Magnitude0
ClinVar
Risk rs727504058(A;A)
Alt rs727504058(A;A)
Reference rs727504058(T;T)
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.193335051T>A
CLNSRC
CLNACC RCV000153617.2, RCV000178304.1,