rs60261494

Orientation

minus

Stabilized

minus

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

Make rs60261494(AG;AG)

Make rs60261494(AG;CC)

Reference

GRCh38 38.1/141

Chromosome

8

Position

24956493

Gene

NEFL

is a	snp
is	mentioned by
dbSNP	rs60261494
dbSNP (classic)	rs60261494
ClinGen	rs60261494
ebi	rs60261494
HLI	rs60261494
Exac	rs60261494
Gnomad	rs60261494
Varsome	rs60261494
LitVar	rs60261494
Map	rs60261494
PheGenI	rs60261494
Biobank	rs60261494
1000 genomes	rs60261494
hgdp	rs60261494
ensembl	rs60261494
geneview	rs60261494
scholar	rs60261494
google	rs60261494
pharmgkb	rs60261494
gwascentral	rs60261494
openSNP	rs60261494
23andMe	rs60261494
SNPshot	rs60261494
SNPdbe	rs60261494
MSV3d	rs60261494
GWAS Ctlg	rs60261494

Max Magnitude

0

ClinVar
Risk	rs60261494(AG;AG)
Alt	rs60261494(AG;AG)
Reference	Rs60261494(CC;CC)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease not provided
Variation	info
Gene	NEFL
CLNDBN	Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease, demyelinating, type 1f not provided
Reversed	1
HGVS	NC_000008.10:g.24814007_24814008delGGinsCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015074.24, RCV000015075.26, RCV000057129.1,