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rs752034900

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs752034900(A;A)
Make rs752034900(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position41527315
GeneACO2, POLR3H
is asnp
is mentioned by
dbSNPrs752034900
ebirs752034900
HLIrs752034900
Exacrs752034900
Varsomers752034900
Maprs752034900
PheGenIrs752034900
hapmaprs752034900
1000 genomesrs752034900
hgdprs752034900
ensemblrs752034900
gopubmedrs752034900
geneviewrs752034900
scholarrs752034900
googlers752034900
pharmgkbrs752034900
gwascentralrs752034900
openSNPrs752034900
23andMers752034900
23andMe allrs752034900
SNP Nexus

SNPshotrs752034900
SNPdbers752034900
MSV3drs752034900
GWAS Ctlgrs752034900
Max Magnitude0
ClinVar
Risk rs752034900(A;A)
Alt rs752034900(A;A)
Reference rs752034900(G;G)
Significance Pathogenic
Disease Optic atrophy 9
Variation info
Gene ACO2 POLR3H
CLNDBN Optic atrophy 9
Reversed 0
HGVS NC_000022.10:g.41923319G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000169730.3, RCV000169731.3,