rs1057517399

Orientation

minus

Stabilized

minus

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

Make rs1057517399(C;C)

Make rs1057517399(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

151688290

Gene

NEB

is a	snp
is	mentioned by
dbSNP	rs1057517399
dbSNP (classic)	rs1057517399
ClinGen	rs1057517399
ebi	rs1057517399
HLI	rs1057517399
Exac	rs1057517399
Gnomad	rs1057517399
Varsome	rs1057517399
LitVar	rs1057517399
Map	rs1057517399
PheGenI	rs1057517399
Biobank	rs1057517399
1000 genomes	rs1057517399
hgdp	rs1057517399
ensembl	rs1057517399
geneview	rs1057517399
scholar	rs1057517399
google	rs1057517399
pharmgkb	rs1057517399
gwascentral	rs1057517399
openSNP	rs1057517399
23andMe	rs1057517399
SNPshot	rs1057517399
SNPdbe	rs1057517399
MSV3d	rs1057517399
GWAS Ctlg	rs1057517399

Max Magnitude

0

ClinVar
Risk	rs1057517399(C;C)
Alt	rs1057517399(C;C)
Reference	Rs1057517399(T;T)
Significance	Probable-Pathogenic
Disease	Nemaline myopathy 2
Variation	info
Gene	NEB
CLNDBN	Nemaline myopathy 2
Reversed	1
HGVS	NC_000002.11:g.152544804A>G
CLNSRC
CLNACC	RCV000411510.1,