rs121434563

Orientation

minus

Stabilized

minus

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

Make rs121434563(A;A)

Make rs121434563(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

62813404

Gene

EGR2

is a	snp
is	mentioned by
dbSNP	rs121434563
dbSNP (classic)	rs121434563
ClinGen	rs121434563
ebi	rs121434563
HLI	rs121434563
Exac	rs121434563
Gnomad	rs121434563
Varsome	rs121434563
LitVar	rs121434563
Map	rs121434563
PheGenI	rs121434563
Biobank	rs121434563
1000 genomes	rs121434563
hgdp	rs121434563
ensembl	rs121434563
geneview	rs121434563
scholar	rs121434563
google	rs121434563
pharmgkb	rs121434563
gwascentral	rs121434563
openSNP	rs121434563
23andMe	rs121434563
SNPshot	rs121434563
SNPdbe	rs121434563
MSV3d	rs121434563
GWAS Ctlg	rs121434563

Max Magnitude

0

OMIM	129010
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121434563(A;A)
Alt	rs121434563(A;A)
Reference	Rs121434563(G;G)
Significance	Pathogenic
Disease	Dejerine-sottas neuropathy
Variation	info
Gene	EGR2
CLNDBN	Dejerine-sottas neuropathy, autosomal dominant
Reversed	1
HGVS	NC_000010.10:g.64573164C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018238.27,