rs281865137

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6.1	Charcot-Marie-Tooth Disease, type 1
(G;G)	0	common in clinvar

Make rs281865137(A;A)

Reference

GRCh38 38.1/141

Chromosome

10

Position

62813496

Gene

EGR2

is a	snp
is	mentioned by
dbSNP	rs281865137
dbSNP (classic)	rs281865137
ClinGen	rs281865137
ebi	rs281865137
HLI	rs281865137
Exac	rs281865137
Gnomad	rs281865137
Varsome	rs281865137
LitVar	rs281865137
Map	rs281865137
PheGenI	rs281865137
Biobank	rs281865137
1000 genomes	rs281865137
hgdp	rs281865137
ensembl	rs281865137
geneview	rs281865137
scholar	rs281865137
google	rs281865137
pharmgkb	rs281865137
gwascentral	rs281865137
openSNP	rs281865137
23andMe	rs281865137
SNPshot	rs281865137
SNPdbe	rs281865137
MSV3d	rs281865137
GWAS Ctlg	rs281865137

Max Magnitude

6.1

ClinVar
Risk	rs281865137(A;A)
Alt	rs281865137(A;A)
Reference	Rs281865137(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	EGR2
CLNDBN	Charcot-Marie-Tooth disease, demyelinating, type 1d
Reversed	1
HGVS	NC_000010.10:g.64573256C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000033901.2,