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rs786204828

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204828(A;A)
Make rs786204828(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome22
Position41515858
GeneACO2
is asnp
is mentioned by
dbSNPrs786204828
ebirs786204828
HLIrs786204828
Exacrs786204828
Varsomers786204828
Maprs786204828
PheGenIrs786204828
hapmaprs786204828
1000 genomesrs786204828
hgdprs786204828
ensemblrs786204828
gopubmedrs786204828
geneviewrs786204828
scholarrs786204828
googlers786204828
pharmgkbrs786204828
gwascentralrs786204828
openSNPrs786204828
23andMers786204828
23andMe allrs786204828
SNP Nexus

SNPshotrs786204828
SNPdbers786204828
MSV3drs786204828
GWAS Ctlgrs786204828
Max Magnitude0
ClinVar
Risk rs786204828(A;A)
Alt rs786204828(A;A)
Reference rs786204828(G;G)
Significance Pathogenic
Disease Infantile cerebellar-retinal degeneration
Variation info
Gene ACO2
CLNDBN Infantile cerebellar-retinal degeneration
Reversed 0
HGVS NC_000022.10:g.41911862G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000169732.3,