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rs864309499

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864309499(C;T)
Make rs864309499(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position41526319
GeneACO2, POLR3H
is asnp
is mentioned by
dbSNPrs864309499
ebirs864309499
HLIrs864309499
Exacrs864309499
Varsomers864309499
Maprs864309499
PheGenIrs864309499
hapmaprs864309499
1000 genomesrs864309499
hgdprs864309499
ensemblrs864309499
gopubmedrs864309499
geneviewrs864309499
scholarrs864309499
googlers864309499
pharmgkbrs864309499
gwascentralrs864309499
openSNPrs864309499
23andMers864309499
23andMe allrs864309499
SNP Nexus

SNPshotrs864309499
SNPdbers864309499
MSV3drs864309499
GWAS Ctlgrs864309499
Max Magnitude0
ClinVar
Risk rs864309499(T;T)
Alt rs864309499(T;T)
Reference rs864309499(C;C)
Significance Probable-Pathogenic
Disease Infantile cerebellar-retinal degeneration
Variation info
Gene ACO2 POLR3H
CLNDBN Infantile cerebellar-retinal degeneration
Reversed 0
HGVS NC_000022.10:g.41922323C>T
CLNSRC
CLNACC RCV000202502.1,