rs137852646

Orientation

plus

Stabilized

plus

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

Make rs137852646(C;C)

Make rs137852646(C;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

30628598

Gene

GARS

is a	snp
is	mentioned by
dbSNP	rs137852646
dbSNP (classic)	rs137852646
ClinGen	rs137852646
ebi	rs137852646
HLI	rs137852646
Exac	rs137852646
Gnomad	rs137852646
Varsome	rs137852646
LitVar	rs137852646
Map	rs137852646
PheGenI	rs137852646
Biobank	rs137852646
1000 genomes	rs137852646
hgdp	rs137852646
ensembl	rs137852646
geneview	rs137852646
scholar	rs137852646
google	rs137852646
pharmgkb	rs137852646
gwascentral	rs137852646
openSNP	rs137852646
23andMe	rs137852646
SNPshot	rs137852646
SNPdbe	rs137852646
MSV3d	rs137852646
GWAS Ctlg	rs137852646

Max Magnitude

0

OMIM	600287
Desc
Variant	0004
Related	also

ClinVar
Risk	rs137852646(A;A) rs137852646(C;C)
Alt	rs137852646(A;A) rs137852646(C;C)
Reference	Rs137852646(G;G)
Significance	Pathogenic
Disease	Distal hereditary motor neuronopathy type 5
Variation	info
Gene	GARS
CLNDBN	Distal hereditary motor neuronopathy type 5
Reversed	0
HGVS	NC_000007.13:g.30668214G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009786.4,