rs104894158

Orientation

minus

Stabilized

minus

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

Make rs104894158(A;A)

Make rs104894158(A;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

62813835

Gene

EGR2

is a	snp
is	mentioned by
dbSNP	rs104894158
dbSNP (classic)	rs104894158
ClinGen	rs104894158
ebi	rs104894158
HLI	rs104894158
Exac	rs104894158
Gnomad	rs104894158
Varsome	rs104894158
LitVar	rs104894158
Map	rs104894158
PheGenI	rs104894158
Biobank	rs104894158
1000 genomes	rs104894158
hgdp	rs104894158
ensembl	rs104894158
geneview	rs104894158
scholar	rs104894158
google	rs104894158
pharmgkb	rs104894158
gwascentral	rs104894158
openSNP	rs104894158
23andMe	rs104894158
SNPshot	rs104894158
SNPdbe	rs104894158
MSV3d	rs104894158
GWAS Ctlg	rs104894158

Max Magnitude

0

OMIM	129010
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894158(A;A)
Alt	rs104894158(A;A)
Reference	Rs104894158(T;T)
Significance	Pathogenic
Disease	Neuropathy Congenital hypomyelinating neuropathy
Variation	info
Gene	EGR2
CLNDBN	Neuropathy, congenital hypomyelinating, autosomal recessive Congenital hypomyelinating neuropathy
Reversed	1
HGVS	NC_000010.10:g.64573595A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018233.27, RCV000031897.1,