rs752034900

Orientation

plus

Stabilized

plus

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

Make rs752034900(A;A)

Make rs752034900(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

22

Position

41527315

Gene	ACO2, POLR3H

is a	snp
is	mentioned by
dbSNP	rs752034900
dbSNP (classic)	rs752034900
ClinGen	rs752034900
ebi	rs752034900
HLI	rs752034900
Exac	rs752034900
Gnomad	rs752034900
Varsome	rs752034900
LitVar	rs752034900
Map	rs752034900
PheGenI	rs752034900
Biobank	rs752034900
1000 genomes	rs752034900
hgdp	rs752034900
ensembl	rs752034900
geneview	rs752034900
scholar	rs752034900
google	rs752034900
pharmgkb	rs752034900
gwascentral	rs752034900
openSNP	rs752034900
23andMe	rs752034900
SNPshot	rs752034900
SNPdbe	rs752034900
MSV3d	rs752034900
GWAS Ctlg	rs752034900

Max Magnitude

0

ClinVar
Risk	rs752034900(A;A)
Alt	rs752034900(A;A)
Reference	Rs752034900(G;G)
Significance	Pathogenic
Disease	Optic atrophy 9
Variation	info
Gene	ACO2 POLR3H
CLNDBN	Optic atrophy 9
Reversed	0
HGVS	NC_000022.10:g.41923319G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000169731.3,