rs527236040

Orientation

minus

Stabilized

minus

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

Make rs527236040(A;T)

Make rs527236040(T;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

135920573

Gene

DARS

is a	snp
is	mentioned by
dbSNP	rs527236040
dbSNP (classic)	rs527236040
ClinGen	rs527236040
ebi	rs527236040
HLI	rs527236040
Exac	rs527236040
Gnomad	rs527236040
Varsome	rs527236040
LitVar	rs527236040
Map	rs527236040
PheGenI	rs527236040
Biobank	rs527236040
1000 genomes	rs527236040
hgdp	rs527236040
ensembl	rs527236040
geneview	rs527236040
scholar	rs527236040
google	rs527236040
pharmgkb	rs527236040
gwascentral	rs527236040
openSNP	rs527236040
23andMe	rs527236040
SNPshot	rs527236040
SNPdbe	rs527236040
MSV3d	rs527236040
GWAS Ctlg	rs527236040

Max Magnitude

0

ClinVar
Risk	rs527236040(T;T)
Alt	rs527236040(T;T)
Reference	Rs527236040(A;A)
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	1
HGVS	NC_000002.11:g.136678143T>A
CLNSRC	ClinVar
CLNACC	RCV000132724.1,