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rs727504060

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727504060(G;G)
Make rs727504060(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position193643419
GeneOPA1
is asnp
is mentioned by
dbSNPrs727504060
ClinGenrs727504060
ebirs727504060
HLIrs727504060
Exacrs727504060
Varsomers727504060
Maprs727504060
PheGenIrs727504060
hapmaprs727504060
1000 genomesrs727504060
hgdprs727504060
ensemblrs727504060
gopubmedrs727504060
geneviewrs727504060
scholarrs727504060
googlers727504060
pharmgkbrs727504060
gwascentralrs727504060
openSNPrs727504060
23andMers727504060
23andMe allrs727504060
SNP Nexus

SNPshotrs727504060
SNPdbers727504060
MSV3drs727504060
GWAS Ctlgrs727504060
Max Magnitude0
ClinVar
Risk rs727504060(A;A) rs727504060(G;G)
Alt rs727504060(A;A) rs727504060(G;G)
Reference Rs727504060(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.193361208T>A; NC_000003.11:g.193361208T>G
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000200712.1, RCV000153621.3,