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rs398124298

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124298(A;A)
Make rs398124298(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position193647110
GeneOPA1
is asnp
is mentioned by
dbSNPrs398124298
ebirs398124298
HLIrs398124298
Exacrs398124298
Varsomers398124298
Maprs398124298
PheGenIrs398124298
hapmaprs398124298
1000 genomesrs398124298
hgdprs398124298
ensemblrs398124298
gopubmedrs398124298
geneviewrs398124298
scholarrs398124298
googlers398124298
pharmgkbrs398124298
gwascentralrs398124298
openSNPrs398124298
23andMers398124298
23andMe allrs398124298
SNP Nexus

SNPshotrs398124298
SNPdbers398124298
MSV3drs398124298
GWAS Ctlgrs398124298
Max Magnitude0
ClinVar
Risk rs398124298(A,G;A,G)
Alt rs398124298(A,G;A,G)
Reference rs398124298(C;C)
Significance Pathogenic
Disease not provided Dominant hereditary optic atrophy Optic Atrophy Type 1
Variation info
Gene OPA1 LOC101929213
CLNDBN not provided Dominant hereditary optic atrophy Optic Atrophy Type 1
Reversed 0
HGVS NC_000003.11:g.193364899C>A; NC_000003.11:g.193364899C>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000081752.3, RCV000175211.1, RCV000023415.3,