rs61491953

Orientation

minus

Stabilized

minus

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

Make rs61491953(C;G)

Make rs61491953(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

24956493

Gene

NEFL

is a	snp
is	mentioned by
dbSNP	rs61491953
dbSNP (classic)	rs61491953
ClinGen	rs61491953
ebi	rs61491953
HLI	rs61491953
Exac	rs61491953
Gnomad	rs61491953
Varsome	rs61491953
LitVar	rs61491953
Map	rs61491953
PheGenI	rs61491953
Biobank	rs61491953
1000 genomes	rs61491953
hgdp	rs61491953
ensembl	rs61491953
geneview	rs61491953
scholar	rs61491953
google	rs61491953
pharmgkb	rs61491953
gwascentral	rs61491953
openSNP	rs61491953
23andMe	rs61491953
SNPshot	rs61491953
SNPdbe	rs61491953
MSV3d	rs61491953
GWAS Ctlg	rs61491953

Max Magnitude

0

OMIM	162280
Desc
Variant	0003
Related	also

ClinVar
Risk	rs61491953(A;A) rs61491953(G;G) rs61491953(T;T)
Alt	rs61491953(A;A) rs61491953(G;G) rs61491953(T;T)
Reference	Rs61491953(C;C)
Significance	Pathogenic
Disease	not provided Charcot-Marie-Tooth disease type 2E
Variation	info
Gene	NEFL
CLNDBN	not provided Charcot-Marie-Tooth disease type 2E
Reversed	1
HGVS	NC_000008.10:g.24814007G>A; NC_000008.10:g.24814007G>C; NC_000008.10:g.24814007G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000057132.1, RCV000057131.1, RCV000234847.1, RCV000057130.1,