rs199422214

Orientation

minus

Stabilized

minus

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

Make rs199422214(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

24955888

Gene

NEFL

is a	snp
is	mentioned by
dbSNP	rs199422214
dbSNP (classic)	rs199422214
ClinGen	rs199422214
ebi	rs199422214
HLI	rs199422214
Exac	rs199422214
Gnomad	rs199422214
Varsome	rs199422214
LitVar	rs199422214
Map	rs199422214
PheGenI	rs199422214
Biobank	rs199422214
1000 genomes	rs199422214
hgdp	rs199422214
ensembl	rs199422214
geneview	rs199422214
scholar	rs199422214
google	rs199422214
pharmgkb	rs199422214
gwascentral	rs199422214
openSNP	rs199422214
23andMe	rs199422214
SNPshot	rs199422214
SNPdbe	rs199422214
MSV3d	rs199422214
GWAS Ctlg	rs199422214

Max Magnitude

6.1

ClinVar
Risk	rs199422214(T;T)
Alt	rs199422214(T;T)
Reference	Rs199422214(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	NEFL
CLNDBN	Charcot-Marie-Tooth disease, demyelinating, type 1f
Reversed	1
HGVS	NC_000008.10:g.24813402C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022674.26,

[PMID 20039262] A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.