rs370064817

Orientation

plus

Stabilized

plus

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

Make rs370064817(C;G)

Make rs370064817(G;G)

Reference

GRCh38 38.1/142

Chromosome

2

Position

135916233

Gene

DARS

is a	snp
is	mentioned by
dbSNP	rs370064817
dbSNP (classic)	rs370064817
ClinGen	rs370064817
ebi	rs370064817
HLI	rs370064817
Exac	rs370064817
Gnomad	rs370064817
Varsome	rs370064817
LitVar	rs370064817
Map	rs370064817
PheGenI	rs370064817
Biobank	rs370064817
1000 genomes	rs370064817
hgdp	rs370064817
ensembl	rs370064817
geneview	rs370064817
scholar	rs370064817
google	rs370064817
pharmgkb	rs370064817
gwascentral	rs370064817
openSNP	rs370064817
23andMe	rs370064817
SNPshot	rs370064817
SNPdbe	rs370064817
MSV3d	rs370064817
GWAS Ctlg	rs370064817

Max Magnitude

0

ClinVar
Risk	rs370064817(A;A) rs370064817(G;G) rs370064817(T;T)
Alt	rs370064817(A;A) rs370064817(G;G) rs370064817(T;T)
Reference	Rs370064817(C;C)
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.136673803C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000043682.3,