rs1057517360

Orientation

minus

Stabilized

minus

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

Make rs1057517360(C;T)

Make rs1057517360(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

151724952

Gene

NEB

is a	snp
is	mentioned by
dbSNP	rs1057517360
dbSNP (classic)	rs1057517360
ClinGen	rs1057517360
ebi	rs1057517360
HLI	rs1057517360
Exac	rs1057517360
Gnomad	rs1057517360
Varsome	rs1057517360
LitVar	rs1057517360
Map	rs1057517360
PheGenI	rs1057517360
Biobank	rs1057517360
1000 genomes	rs1057517360
hgdp	rs1057517360
ensembl	rs1057517360
geneview	rs1057517360
scholar	rs1057517360
google	rs1057517360
pharmgkb	rs1057517360
gwascentral	rs1057517360
openSNP	rs1057517360
23andMe	rs1057517360
SNPshot	rs1057517360
SNPdbe	rs1057517360
MSV3d	rs1057517360
GWAS Ctlg	rs1057517360

Max Magnitude

0

ClinVar
Risk	rs1057517360(T;T)
Alt	rs1057517360(T;T)
Reference	Rs1057517360(C;C)
Significance	Probable-Pathogenic
Disease	Nemaline myopathy 2
Variation	info
Gene	NEB
CLNDBN	Nemaline myopathy 2
Reversed	1
HGVS	NC_000002.11:g.152581466G>A
CLNSRC
CLNACC	RCV000411613.1,