rs1049402

Orientation

plus

Stabilized

plus

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

Make rs1049402(C;G)

Make rs1049402(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

30595045

Gene

GARS

is a	snp
is	mentioned by
dbSNP	rs1049402
dbSNP (classic)	rs1049402
ClinGen	rs1049402
ebi	rs1049402
HLI	rs1049402
Exac	rs1049402
Gnomad	rs1049402
Varsome	rs1049402
LitVar	rs1049402
Map	rs1049402
PheGenI	rs1049402
Biobank	rs1049402
1000 genomes	rs1049402
hgdp	rs1049402
ensembl	rs1049402
geneview	rs1049402
scholar	rs1049402
google	rs1049402
pharmgkb	rs1049402
gwascentral	rs1049402
openSNP	rs1049402
23andMe	rs1049402
SNPshot	rs1049402
SNPdbe	rs1049402
MSV3d	rs1049402
GWAS Ctlg	rs1049402

GMAF

0.3343

Max Magnitude

0

?	(C;C) (C;G) (G;G)	28

ClinVar
Risk	rs1049402(G;G) rs1049402(T;T)
Alt	rs1049402(G;G) rs1049402(T;T)
Reference	Rs1049402(C;C)
Significance	Non-pathogenic
Disease	not specified Distal spinal muscular atrophy Charcot-Marie-Tooth Peripheral axonal neuropathy
Variation	info
Gene	GARS
CLNDBN	not specified Distal spinal muscular atrophy Charcot-Marie-Tooth, Type 2 Peripheral axonal neuropathy
Reversed	0
HGVS	NC_000007.13:g.30634661C>G
CLNSRC
CLNACC	RCV000249303.1, RCV000305283.1, RCV000340289.1, RCV000396526.1,