rs587777589

Orientation

plus

Stabilized

plus

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

Make rs587777589(-;C)

Make rs587777589(C;C)

Reference

GRCh38 38.1/142

Chromosome

6

Position

44311096

Gene

AARS2

is a	snp
is	mentioned by
dbSNP	rs587777589
dbSNP (classic)	rs587777589
ClinGen	rs587777589
ebi	rs587777589
HLI	rs587777589
Exac	rs587777589
Gnomad	rs587777589
Varsome	rs587777589
LitVar	rs587777589
Map	rs587777589
PheGenI	rs587777589
Biobank	rs587777589
1000 genomes	rs587777589
hgdp	rs587777589
ensembl	rs587777589
geneview	rs587777589
scholar	rs587777589
google	rs587777589
pharmgkb	rs587777589
gwascentral	rs587777589
openSNP	rs587777589
23andMe	rs587777589
SNPshot	rs587777589
SNPdbe	rs587777589
MSV3d	rs587777589
GWAS Ctlg	rs587777589

Merged from

Rs746514660

Max Magnitude

0

ClinVar
Risk	rs587777589(C;C)
Alt	rs587777589(C;C)
Reference	Rs587777589(-;-)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 8 Leukoencephalopathy
Variation	info
Gene	AARS2
CLNDBN	Combined oxidative phosphorylation deficiency 8 Leukoencephalopathy, progressive, with ovarian failure
Reversed	0
HGVS	NC_000006.11:g.44278833dupC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000132552.4, RCV000320263.1,