rs104894159

Orientation

minus

Stabilized

minus

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

Make rs104894159(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

62813413

Gene

EGR2

is a	snp
is	mentioned by
dbSNP	rs104894159
dbSNP (classic)	rs104894159
ClinGen	rs104894159
ebi	rs104894159
HLI	rs104894159
Exac	rs104894159
Gnomad	rs104894159
Varsome	rs104894159
LitVar	rs104894159
Map	rs104894159
PheGenI	rs104894159
Biobank	rs104894159
1000 genomes	rs104894159
hgdp	rs104894159
ensembl	rs104894159
geneview	rs104894159
scholar	rs104894159
google	rs104894159
pharmgkb	rs104894159
gwascentral	rs104894159
openSNP	rs104894159
23andMe	rs104894159
SNPshot	rs104894159
SNPdbe	rs104894159
MSV3d	rs104894159
GWAS Ctlg	rs104894159

Max Magnitude

6.1

OMIM	129010
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894159(T;T)
Alt	rs104894159(T;T)
Reference	Rs104894159(C;C)
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.64573173G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018234.23,