rs137852645

Orientation

plus

Stabilized

plus

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

Make rs137852645(A;G)

Make rs137852645(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

30599996

Gene

GARS

is a	snp
is	mentioned by
dbSNP	rs137852645
dbSNP (classic)	rs137852645
ClinGen	rs137852645
ebi	rs137852645
HLI	rs137852645
Exac	rs137852645
Gnomad	rs137852645
Varsome	rs137852645
LitVar	rs137852645
Map	rs137852645
PheGenI	rs137852645
Biobank	rs137852645
1000 genomes	rs137852645
hgdp	rs137852645
ensembl	rs137852645
geneview	rs137852645
scholar	rs137852645
google	rs137852645
pharmgkb	rs137852645
gwascentral	rs137852645
openSNP	rs137852645
23andMe	rs137852645
SNPshot	rs137852645
SNPdbe	rs137852645
MSV3d	rs137852645
GWAS Ctlg	rs137852645

Merged from

Rs28936972

Max Magnitude

0

OMIM	600287
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137852645(G;G)
Alt	rs137852645(G;G)
Reference	Rs137852645(A;A)
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.30639612A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009784.4, RCV000009785.4,