rs1057516758

Orientation

minus

Stabilized

minus

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

Make rs1057516758(-;-)

Make rs1057516758(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

151658088

Gene

NEB

is a	snp
is	mentioned by
dbSNP	rs1057516758
dbSNP (classic)	rs1057516758
ClinGen	rs1057516758
ebi	rs1057516758
HLI	rs1057516758
Exac	rs1057516758
Gnomad	rs1057516758
Varsome	rs1057516758
LitVar	rs1057516758
Map	rs1057516758
PheGenI	rs1057516758
Biobank	rs1057516758
1000 genomes	rs1057516758
hgdp	rs1057516758
ensembl	rs1057516758
geneview	rs1057516758
scholar	rs1057516758
google	rs1057516758
pharmgkb	rs1057516758
gwascentral	rs1057516758
openSNP	rs1057516758
23andMe	rs1057516758
SNPshot	rs1057516758
SNPdbe	rs1057516758
MSV3d	rs1057516758
GWAS Ctlg	rs1057516758

Max Magnitude

0

ClinVar
Risk	rs1057516758(-;-)
Alt	rs1057516758(-;-)
Reference	Rs1057516758(A;A)
Significance	Probable-Pathogenic
Disease	Nemaline myopathy 2
Variation	info
Gene	NEB
CLNDBN	Nemaline myopathy 2
Reversed	1
HGVS	NC_000002.11:g.152514602delT
CLNSRC
CLNACC	RCV000410551.1,