rs369152939

Orientation

plus

Stabilized

plus

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

Make rs369152939(A;A)

Make rs369152939(A;G)

Reference

GRCh38 38.1/142

Chromosome

2

Position

135920591

Gene

DARS

is a	snp
is	mentioned by
dbSNP	rs369152939
dbSNP (classic)	rs369152939
ClinGen	rs369152939
ebi	rs369152939
HLI	rs369152939
Exac	rs369152939
Gnomad	rs369152939
Varsome	rs369152939
LitVar	rs369152939
Map	rs369152939
PheGenI	rs369152939
Biobank	rs369152939
1000 genomes	rs369152939
hgdp	rs369152939
ensembl	rs369152939
geneview	rs369152939
scholar	rs369152939
google	rs369152939
pharmgkb	rs369152939
gwascentral	rs369152939
openSNP	rs369152939
23andMe	rs369152939
SNPshot	rs369152939
SNPdbe	rs369152939
MSV3d	rs369152939
GWAS Ctlg	rs369152939

Max Magnitude

0

ClinVar
Risk	rs369152939(A;A) rs369152939(C;C)
Alt	rs369152939(A;A) rs369152939(C;C)
Reference	Rs369152939(G;G)
Significance	Pathogenic
Disease	Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Variation	info
Gene	DARS
CLNDBN	Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Reversed	0
HGVS	NC_000002.11:g.136678161G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000043683.4,