rs137852647

Orientation

plus

Stabilized

plus

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

Make rs137852647(A;A)

Make rs137852647(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

30626280

Gene

GARS

is a	snp
is	mentioned by
dbSNP	rs137852647
dbSNP (classic)	rs137852647
ClinGen	rs137852647
ebi	rs137852647
HLI	rs137852647
Exac	rs137852647
Gnomad	rs137852647
Varsome	rs137852647
LitVar	rs137852647
Map	rs137852647
PheGenI	rs137852647
Biobank	rs137852647
1000 genomes	rs137852647
hgdp	rs137852647
ensembl	rs137852647
geneview	rs137852647
scholar	rs137852647
google	rs137852647
pharmgkb	rs137852647
gwascentral	rs137852647
openSNP	rs137852647
23andMe	rs137852647
SNPshot	rs137852647
SNPdbe	rs137852647
MSV3d	rs137852647
GWAS Ctlg	rs137852647

Max Magnitude

0

OMIM	600287
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137852647(A;A)
Alt	rs137852647(A;A)
Reference	Rs137852647(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 2D Distal hereditary motor neuronopathy type 5
Variation	info
Gene	GARS
CLNDBN	Charcot-Marie-Tooth disease type 2D Distal hereditary motor neuronopathy type 5
Reversed	0
HGVS	NC_000007.13:g.30665896G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009787.6, RCV000009788.4,