rs864309499

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(T;T)	1	Likely miscall in Ancestry & LivingDNA data

Make rs864309499(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

22

Position

41526319

Gene	ACO2, POLR3H

is a	snp
is	mentioned by
dbSNP	rs864309499
dbSNP (classic)	rs864309499
ClinGen	rs864309499
ebi	rs864309499
HLI	rs864309499
Exac	rs864309499
Gnomad	rs864309499
Varsome	rs864309499
LitVar	rs864309499
Map	rs864309499
PheGenI	rs864309499
Biobank	rs864309499
1000 genomes	rs864309499
hgdp	rs864309499
ensembl	rs864309499
geneview	rs864309499
scholar	rs864309499
google	rs864309499
pharmgkb	rs864309499
gwascentral	rs864309499
openSNP	rs864309499
23andMe	rs864309499
SNPshot	rs864309499
SNPdbe	rs864309499
MSV3d	rs864309499
GWAS Ctlg	rs864309499

Max Magnitude

1

aka c.1819C>T (p.Arg607Cys or R607C)

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,