rs786204828

Orientation

plus

Stabilized

plus

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

Make rs786204828(A;A)

Make rs786204828(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

22

Position

41515858

Gene

ACO2

is a	snp
is	mentioned by
dbSNP	rs786204828
dbSNP (classic)	rs786204828
ClinGen	rs786204828
ebi	rs786204828
HLI	rs786204828
Exac	rs786204828
Gnomad	rs786204828
Varsome	rs786204828
LitVar	rs786204828
Map	rs786204828
PheGenI	rs786204828
Biobank	rs786204828
1000 genomes	rs786204828
hgdp	rs786204828
ensembl	rs786204828
geneview	rs786204828
scholar	rs786204828
google	rs786204828
pharmgkb	rs786204828
gwascentral	rs786204828
openSNP	rs786204828
23andMe	rs786204828
SNPshot	rs786204828
SNPdbe	rs786204828
MSV3d	rs786204828
GWAS Ctlg	rs786204828

Max Magnitude

0

ClinVar
Risk	rs786204828(A;A)
Alt	rs786204828(A;A)
Reference	Rs786204828(G;G)
Significance	Pathogenic
Disease	Infantile cerebellar-retinal degeneration
Variation	info
Gene	ACO2
CLNDBN	Infantile cerebellar-retinal degeneration
Reversed	0
HGVS	NC_000022.10:g.41911862G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000169732.3,