rs104894161

Orientation

minus

Stabilized

minus

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

Make rs104894161(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

62813563

Gene

EGR2

is a	snp
is	mentioned by
dbSNP	rs104894161
dbSNP (classic)	rs104894161
ClinGen	rs104894161
ebi	rs104894161
HLI	rs104894161
Exac	rs104894161
Gnomad	rs104894161
Varsome	rs104894161
LitVar	rs104894161
Map	rs104894161
PheGenI	rs104894161
Biobank	rs104894161
1000 genomes	rs104894161
hgdp	rs104894161
ensembl	rs104894161
geneview	rs104894161
scholar	rs104894161
google	rs104894161
pharmgkb	rs104894161
gwascentral	rs104894161
openSNP	rs104894161
23andMe	rs104894161
SNPshot	rs104894161
SNPdbe	rs104894161
MSV3d	rs104894161
GWAS Ctlg	rs104894161

Max Magnitude

6.1

OMIM	129010
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894161(T;T)
Alt	rs104894161(T;T)
Reference	Rs104894161(C;C)
Significance	Pathogenic
Disease	Dejerine-sottas neuropathy Charcot-Marie-Tooth disease Dejerine-Sottas disease Charcot-Marie-Tooth disease
Variation	info
Gene	EGR2
CLNDBN	Dejerine-sottas neuropathy, autosomal dominant Charcot-Marie-Tooth disease, demyelinating, type 1d Dejerine-Sottas disease Charcot-Marie-Tooth disease, type I
Reversed	1
HGVS	NC_000010.10:g.64573323G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018236.27, RCV000018237.23, RCV000032120.1, RCV000231023.1,