rs201358272

Orientation

plus

Stabilized

plus

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

Make rs201358272(C;T)

Make rs201358272(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

30632247

Gene

GARS

is a	snp
is	mentioned by
dbSNP	rs201358272
dbSNP (classic)	rs201358272
ClinGen	rs201358272
ebi	rs201358272
HLI	rs201358272
Exac	rs201358272
Gnomad	rs201358272
Varsome	rs201358272
LitVar	rs201358272
Map	rs201358272
PheGenI	rs201358272
Biobank	rs201358272
1000 genomes	rs201358272
hgdp	rs201358272
ensembl	rs201358272
geneview	rs201358272
scholar	rs201358272
google	rs201358272
pharmgkb	rs201358272
gwascentral	rs201358272
openSNP	rs201358272
23andMe	rs201358272
SNPshot	rs201358272
SNPdbe	rs201358272
MSV3d	rs201358272
GWAS Ctlg	rs201358272

Max Magnitude

0

ClinVar
Risk	rs201358272(G;G) rs201358272(T;T)
Alt	rs201358272(G;G) rs201358272(T;T)
Reference	Rs201358272(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.30671863C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000191089.1,