rs104894160

Orientation

minus

Stabilized

minus

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

Make rs104894160(G;T)

Make rs104894160(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

62813491

Gene

EGR2

is a	snp
is	mentioned by
dbSNP	rs104894160
dbSNP (classic)	rs104894160
ClinGen	rs104894160
ebi	rs104894160
HLI	rs104894160
Exac	rs104894160
Gnomad	rs104894160
Varsome	rs104894160
LitVar	rs104894160
Map	rs104894160
PheGenI	rs104894160
Biobank	rs104894160
1000 genomes	rs104894160
hgdp	rs104894160
ensembl	rs104894160
geneview	rs104894160
scholar	rs104894160
google	rs104894160
pharmgkb	rs104894160
gwascentral	rs104894160
openSNP	rs104894160
23andMe	rs104894160
SNPshot	rs104894160
SNPdbe	rs104894160
MSV3d	rs104894160
GWAS Ctlg	rs104894160

Max Magnitude

0

OMIM	129010
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894160(T;T)
Alt	rs104894160(T;T)
Reference	Rs104894160(G;G)
Significance	Pathogenic
Disease	Neuropathy Congenital hypomyelinating neuropathy
Variation	info
Gene	EGR2
CLNDBN	Neuropathy, congenital hypomyelinating, autosomal dominant Congenital hypomyelinating neuropathy
Reversed	1
HGVS	NC_000010.10:g.64573251C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018235.27, RCV000032122.1,