rs543267101

Orientation

plus

Stabilized

plus

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

Make rs543267101(C;T)

Make rs543267101(T;T)

Reference

GRCh38 38.1/142

Chromosome

6

Position

44300612

Gene

AARS2

is a	snp
is	mentioned by
dbSNP	rs543267101
dbSNP (classic)	rs543267101
ClinGen	rs543267101
ebi	rs543267101
HLI	rs543267101
Exac	rs543267101
Gnomad	rs543267101
Varsome	rs543267101
LitVar	rs543267101
Map	rs543267101
PheGenI	rs543267101
Biobank	rs543267101
1000 genomes	rs543267101
hgdp	rs543267101
ensembl	rs543267101
geneview	rs543267101
scholar	rs543267101
google	rs543267101
pharmgkb	rs543267101
gwascentral	rs543267101
openSNP	rs543267101
23andMe	rs543267101
SNPshot	rs543267101
SNPdbe	rs543267101
MSV3d	rs543267101
GWAS Ctlg	rs543267101

Max Magnitude

0

ClinVar
Risk	rs543267101(T;T)
Alt	rs543267101(T;T)
Reference	Rs543267101(C;C)
Significance	Pathogenic
Disease	Leukoencephalopathy
Variation	info
Gene	AARS2
CLNDBN	Leukoencephalopathy, progressive, with ovarian failure
Reversed	0
HGVS	NC_000006.11:g.44268349C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000132555.2,