rs137852648

Orientation

plus

Stabilized

plus

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

Make rs137852648(C;T)

Make rs137852648(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

30612107

Gene

GARS

is a	snp
is	mentioned by
dbSNP	rs137852648
dbSNP (classic)	rs137852648
ClinGen	rs137852648
ebi	rs137852648
HLI	rs137852648
Exac	rs137852648
Gnomad	rs137852648
Varsome	rs137852648
LitVar	rs137852648
Map	rs137852648
PheGenI	rs137852648
Biobank	rs137852648
1000 genomes	rs137852648
hgdp	rs137852648
ensembl	rs137852648
geneview	rs137852648
scholar	rs137852648
google	rs137852648
pharmgkb	rs137852648
gwascentral	rs137852648
openSNP	rs137852648
23andMe	rs137852648
SNPshot	rs137852648
SNPdbe	rs137852648
MSV3d	rs137852648
GWAS Ctlg	rs137852648

Max Magnitude

0

OMIM	600287
Desc
Variant	0006
Related	also

ClinVar
Risk	rs137852648(T;T)
Alt	rs137852648(T;T)
Reference	Rs137852648(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 2D
Variation	info
Gene	GARS
CLNDBN	Charcot-Marie-Tooth disease type 2D
Reversed	0
HGVS	NC_000007.13:g.30651723C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009789.4,