rs786204829

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs786204829(C;C)

Make rs786204829(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

22

Position

41528022

Gene	ACO2, POLR3H

is a	snp
is	mentioned by
dbSNP	rs786204829
dbSNP (classic)	rs786204829
ClinGen	rs786204829
ebi	rs786204829
HLI	rs786204829
Exac	rs786204829
Gnomad	rs786204829
Varsome	rs786204829
LitVar	rs786204829
Map	rs786204829
PheGenI	rs786204829
Biobank	rs786204829
1000 genomes	rs786204829
hgdp	rs786204829
ensembl	rs786204829
geneview	rs786204829
scholar	rs786204829
google	rs786204829
pharmgkb	rs786204829
gwascentral	rs786204829
openSNP	rs786204829
23andMe	rs786204829
SNPshot	rs786204829
SNPdbe	rs786204829
MSV3d	rs786204829
GWAS Ctlg	rs786204829

Max Magnitude

0

ClinVar
Risk	rs786204829(C;C)
Alt	rs786204829(C;C)
Reference	Rs786204829(G;G)
Significance	Pathogenic
Disease	Infantile cerebellar-retinal degeneration
Variation	info
Gene	ACO2 POLR3H
CLNDBN	Infantile cerebellar-retinal degeneration
Reversed	0
HGVS	NC_000022.10:g.41924026G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000169733.3,