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rs786204829

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204829(C;C)
Make rs786204829(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome22
Position41528022
GeneACO2, POLR3H
is asnp
is mentioned by
dbSNPrs786204829
ebirs786204829
HLIrs786204829
Exacrs786204829
Varsomers786204829
Maprs786204829
PheGenIrs786204829
hapmaprs786204829
1000 genomesrs786204829
hgdprs786204829
ensemblrs786204829
gopubmedrs786204829
geneviewrs786204829
scholarrs786204829
googlers786204829
pharmgkbrs786204829
gwascentralrs786204829
openSNPrs786204829
23andMers786204829
23andMe allrs786204829
SNP Nexus

SNPshotrs786204829
SNPdbers786204829
MSV3drs786204829
GWAS Ctlgrs786204829
Max Magnitude0
ClinVar
Risk rs786204829(C;C)
Alt rs786204829(C;C)
Reference rs786204829(G;G)
Significance Pathogenic
Disease Infantile cerebellar-retinal degeneration
Variation info
Gene ACO2 POLR3H
CLNDBN Infantile cerebellar-retinal degeneration
Reversed 0
HGVS NC_000022.10:g.41924026G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000169733.3,