rs746514660

Merged into

rs587777589

Orientation

plus

Stabilized

plus

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

Make rs746514660(-;C)

Make rs746514660(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

6

Position

44311095

Gene

AARS2

is a	snp
is	mentioned by
dbSNP	rs746514660
dbSNP (classic)	rs746514660
ClinGen	rs746514660
ebi	rs746514660
HLI	rs746514660
Exac	rs746514660
Gnomad	rs746514660
Varsome	rs746514660
LitVar	rs746514660
Map	rs746514660
PheGenI	rs746514660
Biobank	rs746514660
1000 genomes	rs746514660
hgdp	rs746514660
ensembl	rs746514660
geneview	rs746514660
scholar	rs746514660
google	rs746514660
pharmgkb	rs746514660
gwascentral	rs746514660
openSNP	rs746514660
23andMe	rs746514660
SNPshot	rs746514660
SNPdbe	rs746514660
MSV3d	rs746514660
GWAS Ctlg	rs746514660

Status

Merged into rs587777589

Max Magnitude

0

ClinVar
Risk	rs746514660(C;C)
Alt	rs746514660(C;C)
Reference	Rs746514660(;)
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,