rs138119149

Orientation

plus

Stabilized

plus

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

Make rs138119149(A;A)

Make rs138119149(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

44304512

Gene

AARS2

is a	snp
is	mentioned by
dbSNP	rs138119149
dbSNP (classic)	rs138119149
ClinGen	rs138119149
ebi	rs138119149
HLI	rs138119149
Exac	rs138119149
Gnomad	rs138119149
Varsome	rs138119149
LitVar	rs138119149
Map	rs138119149
PheGenI	rs138119149
Biobank	rs138119149
1000 genomes	rs138119149
hgdp	rs138119149
ensembl	rs138119149
geneview	rs138119149
scholar	rs138119149
google	rs138119149
pharmgkb	rs138119149
gwascentral	rs138119149
openSNP	rs138119149
23andMe	rs138119149
SNPshot	rs138119149
SNPdbe	rs138119149
MSV3d	rs138119149
GWAS Ctlg	rs138119149

Max Magnitude

0

ClinVar
Risk	rs138119149(A;A)
Alt	rs138119149(A;A)
Reference	Rs138119149(G;G)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 8 not provided
Variation	info
Gene	AARS2
CLNDBN	Combined oxidative phosphorylation deficiency 8 not provided
Reversed	0
HGVS	NC_000006.11:g.44272249G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023929.3, RCV000196012.2,