Have questions? Visit https://www.reddit.com/r/SNPedia

rs398124303

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398124303(A;G)
Make rs398124303(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position193638064
GeneOPA1
is asnp
is mentioned by
dbSNPrs398124303
dbSNP (classic)rs398124303
ClinGenrs398124303
ebirs398124303
HLIrs398124303
Exacrs398124303
Gnomadrs398124303
Varsomers398124303
LitVarrs398124303
Maprs398124303
PheGenIrs398124303
Biobankrs398124303
1000 genomesrs398124303
hgdprs398124303
ensemblrs398124303
geneviewrs398124303
scholarrs398124303
googlers398124303
pharmgkbrs398124303
gwascentralrs398124303
openSNPrs398124303
23andMers398124303
SNPshotrs398124303
SNPdbers398124303
MSV3drs398124303
GWAS Ctlgrs398124303
Max Magnitude0
ClinVar
Risk rs398124303(C;C) rs398124303(G;G)
Alt rs398124303(C;C) rs398124303(G;G)
Reference Rs398124303(A;A)
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.193355853A>G
CLNSRC HGMD
CLNACC RCV000081775.4, RCV000180653.3,