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rs143929819

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs143929819(A;G)
Make rs143929819(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position193692127
GeneOPA1
is asnp
is mentioned by
dbSNPrs143929819
ebirs143929819
HLIrs143929819
Exacrs143929819
Varsomers143929819
Maprs143929819
PheGenIrs143929819
hapmaprs143929819
1000 genomesrs143929819
hgdprs143929819
ensemblrs143929819
gopubmedrs143929819
geneviewrs143929819
scholarrs143929819
googlers143929819
pharmgkbrs143929819
gwascentralrs143929819
openSNPrs143929819
23andMers143929819
23andMe allrs143929819
SNP Nexus

SNPshotrs143929819
SNPdbers143929819
MSV3drs143929819
GWAS Ctlgrs143929819
Max Magnitude0
ClinVar
Risk rs143929819(C,G;C,G)
Alt rs143929819(C,G;C,G)
Reference rs143929819(A;A)
Significance Probable-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.193409916A>C
CLNSRC HGMD
CLNACC RCV000153624.2, RCV000176886.1,