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rs375761361

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs375761361(C;T)
Make rs375761361(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position41527949
GeneACO2, POLR3H
is asnp
is mentioned by
dbSNPrs375761361
ebirs375761361
HLIrs375761361
Exacrs375761361
Varsomers375761361
Maprs375761361
PheGenIrs375761361
hapmaprs375761361
1000 genomesrs375761361
hgdprs375761361
ensemblrs375761361
gopubmedrs375761361
geneviewrs375761361
scholarrs375761361
googlers375761361
pharmgkbrs375761361
gwascentralrs375761361
openSNPrs375761361
23andMers375761361
23andMe allrs375761361
SNP Nexus

SNPshotrs375761361
SNPdbers375761361
MSV3drs375761361
GWAS Ctlgrs375761361
Max Magnitude0
ClinVar
Risk rs375761361(G,T;G,T)
Alt rs375761361(G,T;G,T)
Reference rs375761361(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.41923953C>T
CLNSRC Baylor College of Medicine
CLNACC RCV000202542.1,