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rs786200924

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786200924(C;G)
Make rs786200924(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome22
Position41507953
GeneACO2
is asnp
is mentioned by
dbSNPrs786200924
ebirs786200924
HLIrs786200924
Exacrs786200924
Varsomers786200924
Maprs786200924
PheGenIrs786200924
hapmaprs786200924
1000 genomesrs786200924
hgdprs786200924
ensemblrs786200924
gopubmedrs786200924
geneviewrs786200924
scholarrs786200924
googlers786200924
pharmgkbrs786200924
gwascentralrs786200924
openSNPrs786200924
23andMers786200924
23andMe allrs786200924
SNP Nexus

SNPshotrs786200924
SNPdbers786200924
MSV3drs786200924
GWAS Ctlgrs786200924
Max Magnitude0
ClinVar
Risk rs786200924(G;G)
Alt rs786200924(G;G)
Reference rs786200924(C;C)
Significance Pathogenic
Disease Infantile cerebellar-retinal degeneration
Variation info
Gene ACO2
CLNDBN Infantile cerebellar-retinal degeneration
Reversed 0
HGVS NC_000022.10:g.41903957C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022421.28,