rs58982919

Orientation

minus

Stabilized

minus

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

Make rs58982919(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

24956223

Gene

NEFL

is a	snp
is	mentioned by
dbSNP	rs58982919
dbSNP (classic)	rs58982919
ClinGen	rs58982919
ebi	rs58982919
HLI	rs58982919
Exac	rs58982919
Gnomad	rs58982919
Varsome	rs58982919
LitVar	rs58982919
Map	rs58982919
PheGenI	rs58982919
Biobank	rs58982919
1000 genomes	rs58982919
hgdp	rs58982919
ensembl	rs58982919
geneview	rs58982919
scholar	rs58982919
google	rs58982919
pharmgkb	rs58982919
gwascentral	rs58982919
openSNP	rs58982919
23andMe	rs58982919
SNPshot	rs58982919
SNPdbe	rs58982919
MSV3d	rs58982919
GWAS Ctlg	rs58982919

Max Magnitude

6.1

ClinVar
Risk	rs58982919(G;G)
Alt	rs58982919(G;G)
Reference	Rs58982919(A;A)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease not provided
Variation	info
Gene	NEFL
CLNDBN	Charcot-Marie-Tooth disease, demyelinating, type 1f not provided
Reversed	1
HGVS	NC_000008.10:g.24813737T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000034136.2, RCV000057136.2,