rs1057516676

Orientation

minus

Stabilized

minus

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

Make rs1057516676(C;T)

Make rs1057516676(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

151643272

Gene

NEB

is a	snp
is	mentioned by
dbSNP	rs1057516676
dbSNP (classic)	rs1057516676
ClinGen	rs1057516676
ebi	rs1057516676
HLI	rs1057516676
Exac	rs1057516676
Gnomad	rs1057516676
Varsome	rs1057516676
LitVar	rs1057516676
Map	rs1057516676
PheGenI	rs1057516676
Biobank	rs1057516676
1000 genomes	rs1057516676
hgdp	rs1057516676
ensembl	rs1057516676
geneview	rs1057516676
scholar	rs1057516676
google	rs1057516676
pharmgkb	rs1057516676
gwascentral	rs1057516676
openSNP	rs1057516676
23andMe	rs1057516676
SNPshot	rs1057516676
SNPdbe	rs1057516676
MSV3d	rs1057516676
GWAS Ctlg	rs1057516676

Max Magnitude

0

ClinVar
Risk	rs1057516676(T;T)
Alt	rs1057516676(T;T)
Reference	Rs1057516676(C;C)
Significance	Probable-Pathogenic
Disease	Nemaline myopathy 2
Variation	info
Gene	NEB
CLNDBN	Nemaline myopathy 2
Reversed	1
HGVS	NC_000002.11:g.152499786G>A
CLNSRC
CLNACC	RCV000409018.1,