rs7426114

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	0

Make rs7426114(C;C)

Make rs7426114(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

151671058

Gene

NEB

is a	snp
is	mentioned by
dbSNP	rs7426114
dbSNP (classic)	rs7426114
ClinGen	rs7426114
ebi	rs7426114
HLI	rs7426114
Exac	rs7426114
Gnomad	rs7426114
Varsome	rs7426114
LitVar	rs7426114
Map	rs7426114
PheGenI	rs7426114
Biobank	rs7426114
1000 genomes	rs7426114
hgdp	rs7426114
ensembl	rs7426114
geneview	rs7426114
scholar	rs7426114
google	rs7426114
pharmgkb	rs7426114
gwascentral	rs7426114
openSNP	rs7426114
23andMe	rs7426114
SNPshot	rs7426114
SNPdbe	rs7426114
MSV3d	rs7426114
GWAS Ctlg	rs7426114

GMAF

0.4302

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	rs7426114(T;T)
Alt	rs7426114(T;T)
Reference	rs7426114(C;C)
Significance	Other
Disease	not specified Nemaline Myopathy
Variation	info
Gene	NEB
CLNDBN	not specified Nemaline Myopathy, Recessive
Reversed	0
HGVS	NC_000002.11:g.152527572C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000081137.10, RCV000348796.1,