rs1057516348

Orientation

minus

Stabilized

minus

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

Make rs1057516348(AGG;TC)

Make rs1057516348(TC;TC)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

151650339

Gene

NEB

is a	snp
is	mentioned by
dbSNP	rs1057516348
dbSNP (classic)	rs1057516348
ClinGen	rs1057516348
ebi	rs1057516348
HLI	rs1057516348
Exac	rs1057516348
Gnomad	rs1057516348
Varsome	rs1057516348
LitVar	rs1057516348
Map	rs1057516348
PheGenI	rs1057516348
Biobank	rs1057516348
1000 genomes	rs1057516348
hgdp	rs1057516348
ensembl	rs1057516348
geneview	rs1057516348
scholar	rs1057516348
google	rs1057516348
pharmgkb	rs1057516348
gwascentral	rs1057516348
openSNP	rs1057516348
23andMe	rs1057516348
SNPshot	rs1057516348
SNPdbe	rs1057516348
MSV3d	rs1057516348
GWAS Ctlg	rs1057516348

Max Magnitude

0

ClinVar
Risk	rs1057516348(TC;TC)
Alt	rs1057516348(TC;TC)
Reference	Rs1057516348(AGG;AGG)
Significance	Probable-Pathogenic
Disease	Nemaline myopathy 2
Variation	info
Gene	NEB
CLNDBN	Nemaline myopathy 2
Reversed	1
HGVS	NC_000002.11:g.152506853_152506855delCCTinsGA
CLNSRC
CLNACC	RCV000410019.1,