rs387907061

Orientation

minus

Stabilized

minus

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

Make rs387907061(G;G)

Make rs387907061(G;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

44311507

Gene

AARS2

is a	snp
is	mentioned by
dbSNP	rs387907061
dbSNP (classic)	rs387907061
ClinGen	rs387907061
ebi	rs387907061
HLI	rs387907061
Exac	rs387907061
Gnomad	rs387907061
Varsome	rs387907061
LitVar	rs387907061
Map	rs387907061
PheGenI	rs387907061
Biobank	rs387907061
1000 genomes	rs387907061
hgdp	rs387907061
ensembl	rs387907061
geneview	rs387907061
scholar	rs387907061
google	rs387907061
pharmgkb	rs387907061
gwascentral	rs387907061
openSNP	rs387907061
23andMe	rs387907061
SNPshot	rs387907061
SNPdbe	rs387907061
MSV3d	rs387907061
GWAS Ctlg	rs387907061

Max Magnitude

0

ClinVar
Risk	rs387907061(G;G)
Alt	rs387907061(G;G)
Reference	Rs387907061(T;T)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 8
Variation	info
Gene	AARS2
CLNDBN	Combined oxidative phosphorylation deficiency 8
Reversed	1
HGVS	NC_000006.11:g.44279244A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023930.3,