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rs398124301

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124301(C;T)
Make rs398124301(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position193658977
GeneLOC102724808, OPA1
is asnp
is mentioned by
dbSNPrs398124301
dbSNP (classic)rs398124301
ClinGenrs398124301
ebirs398124301
HLIrs398124301
Exacrs398124301
Gnomadrs398124301
Varsomers398124301
LitVarrs398124301
Maprs398124301
PheGenIrs398124301
Biobankrs398124301
1000 genomesrs398124301
hgdprs398124301
ensemblrs398124301
geneviewrs398124301
scholarrs398124301
googlers398124301
pharmgkbrs398124301
gwascentralrs398124301
openSNPrs398124301
23andMers398124301
SNPshotrs398124301
SNPdbers398124301
MSV3drs398124301
GWAS Ctlgrs398124301
Max Magnitude0
ClinVar
Risk rs398124301(T;T)
Alt rs398124301(T;T)
Reference Rs398124301(C;C)
Significance Pathogenic
Disease not provided Dominant hereditary optic atrophy
Variation info
Gene OPA1 LOC101929213
CLNDBN not provided Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193376766C>T
CLNSRC ClinVar Emory University
CLNACC RCV000081760.3, RCV000176319.1,