rs587777590

Orientation

plus

Stabilized

minus

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

Make rs587777590(A;C)

Make rs587777590(C;C)

Reference

GRCh38 38.1/142

Chromosome

6

Position

44313175

Gene

AARS2

is a	snp
is	mentioned by
dbSNP	rs587777590
dbSNP (classic)	rs587777590
ClinGen	rs587777590
ebi	rs587777590
HLI	rs587777590
Exac	rs587777590
Gnomad	rs587777590
Varsome	rs587777590
LitVar	rs587777590
Map	rs587777590
PheGenI	rs587777590
Biobank	rs587777590
1000 genomes	rs587777590
hgdp	rs587777590
ensembl	rs587777590
geneview	rs587777590
scholar	rs587777590
google	rs587777590
pharmgkb	rs587777590
gwascentral	rs587777590
openSNP	rs587777590
23andMe	rs587777590
SNPshot	rs587777590
SNPdbe	rs587777590
MSV3d	rs587777590
GWAS Ctlg	rs587777590

Max Magnitude

0

ClinVar
Risk	Rs587777590(A;A) rs587777590(C;C)
Alt	Rs587777590(A;A) rs587777590(C;C)
Reference	Rs587777590(T;T)
Significance	Pathogenic
Disease	Leukoencephalopathy
Variation	info
Gene	AARS2
CLNDBN	Leukoencephalopathy, progressive, with ovarian failure
Reversed	1
HGVS	NC_000006.11:g.44280912A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000132553.2,