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rs121908375

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908375(A;A)
Make rs121908375(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position193637280
GeneOPA1
is asnp
is mentioned by
dbSNPrs121908375
ebirs121908375
HLIrs121908375
Exacrs121908375
Varsomers121908375
Maprs121908375
PheGenIrs121908375
hapmaprs121908375
1000 genomesrs121908375
hgdprs121908375
ensemblrs121908375
gopubmedrs121908375
geneviewrs121908375
scholarrs121908375
googlers121908375
pharmgkbrs121908375
gwascentralrs121908375
openSNPrs121908375
23andMers121908375
23andMe allrs121908375
SNP Nexus

SNPshotrs121908375
SNPdbers121908375
MSV3drs121908375
GWAS Ctlgrs121908375
Max Magnitude0
OMIM605290
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908375(A;A)
Alt rs121908375(A;A)
Reference rs121908375(G;G)
Significance Pathogenic
Disease Dominant hereditary optic atrophy not provided
Variation info
Gene OPA1
CLNDBN Dominant hereditary optic atrophy not provided
Reversed 0
HGVS NC_000003.11:g.193355069G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000005389.3, RCV000081771.3,