rs121913663

Orientation

minus

Stabilized

minus

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

Make rs121913663(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

24956098

Gene

NEFL

is a	snp
is	mentioned by
dbSNP	rs121913663
dbSNP (classic)	rs121913663
ClinGen	rs121913663
ebi	rs121913663
HLI	rs121913663
Exac	rs121913663
Gnomad	rs121913663
Varsome	rs121913663
LitVar	rs121913663
Map	rs121913663
PheGenI	rs121913663
Biobank	rs121913663
1000 genomes	rs121913663
hgdp	rs121913663
ensembl	rs121913663
geneview	rs121913663
scholar	rs121913663
google	rs121913663
pharmgkb	rs121913663
gwascentral	rs121913663
openSNP	rs121913663
23andMe	rs121913663
SNPshot	rs121913663
SNPdbe	rs121913663
MSV3d	rs121913663
GWAS Ctlg	rs121913663

Max Magnitude

6.1

OMIM	162280
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121913663(A;A) rs121913663(T;T)
Alt	rs121913663(A;A) rs121913663(T;T)
Reference	Rs121913663(G;G)
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.24813612C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015079.26, RCV000057137.1,