rs143722284

Orientation

plus

Stabilized

plus

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

Make rs143722284(A;A)

Make rs143722284(A;G)

Reference

GRCh38 38.1/142

Chromosome

1

Position

220137990

Gene

IARS2

is a	snp
is	mentioned by
dbSNP	rs143722284
dbSNP (classic)	rs143722284
ClinGen	rs143722284
ebi	rs143722284
HLI	rs143722284
Exac	rs143722284
Gnomad	rs143722284
Varsome	rs143722284
LitVar	rs143722284
Map	rs143722284
PheGenI	rs143722284
Biobank	rs143722284
1000 genomes	rs143722284
hgdp	rs143722284
ensembl	rs143722284
geneview	rs143722284
scholar	rs143722284
google	rs143722284
pharmgkb	rs143722284
gwascentral	rs143722284
openSNP	rs143722284
23andMe	rs143722284
SNPshot	rs143722284
SNPdbe	rs143722284
MSV3d	rs143722284
GWAS Ctlg	rs143722284

Max Magnitude

0

ClinVar
Risk	rs143722284(A;A)
Alt	rs143722284(A;A)
Reference	Rs143722284(G;G)
Significance	Pathogenic
Disease	Leigh syndrome not provided
Variation	info
Gene	IARS2
CLNDBN	Leigh syndrome not provided
Reversed	0
HGVS	NC_000001.10:g.220311332G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144717.1, RCV000144956.3,