Have questions? Visit https://www.reddit.com/r/SNPedia

rs786204830

From SNPedia

Orientationplus
Geno Mag Summary
(GAAG;GAAG) 0 common in clinvar
Make rs786204830(-;-)
Make rs786204830(-;GGAA)
Make rs786204830(GGAA;GGAA)
ReferenceGRCh38.p2 38.2/146
Chromosome22
Position41528598
GeneACO2, POLR3H
is asnp
is mentioned by
dbSNPrs786204830
ebirs786204830
HLIrs786204830
Exacrs786204830
Varsomers786204830
Maprs786204830
PheGenIrs786204830
hapmaprs786204830
1000 genomesrs786204830
hgdprs786204830
ensemblrs786204830
gopubmedrs786204830
geneviewrs786204830
scholarrs786204830
googlers786204830
pharmgkbrs786204830
gwascentralrs786204830
openSNPrs786204830
23andMers786204830
23andMe allrs786204830
SNP Nexus

SNPshotrs786204830
SNPdbers786204830
MSV3drs786204830
GWAS Ctlgrs786204830
Max Magnitude0
ClinVar
Risk rs786204830(;)
Alt rs786204830(;)
Reference rs786204830(GAAG;GAAG)
Significance Pathogenic
Disease Infantile cerebellar-retinal degeneration
Variation info
Gene ACO2 POLR3H
CLNDBN Infantile cerebellar-retinal degeneration
Reversed 0
HGVS NC_000022.10:g.41924602_41924605delGGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000169734.3,