rs587780399

Orientation

minus

Stabilized

minus

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

Make rs587780399(A;A)

Make rs587780399(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

151677875

Gene

NEB

is a	snp
is	mentioned by
dbSNP	rs587780399
dbSNP (classic)	rs587780399
ClinGen	rs587780399
ebi	rs587780399
HLI	rs587780399
Exac	rs587780399
Gnomad	rs587780399
Varsome	rs587780399
LitVar	rs587780399
Map	rs587780399
PheGenI	rs587780399
Biobank	rs587780399
1000 genomes	rs587780399
hgdp	rs587780399
ensembl	rs587780399
geneview	rs587780399
scholar	rs587780399
google	rs587780399
pharmgkb	rs587780399
gwascentral	rs587780399
openSNP	rs587780399
23andMe	rs587780399
SNPshot	rs587780399
SNPdbe	rs587780399
MSV3d	rs587780399
GWAS Ctlg	rs587780399

Max Magnitude

0

ClinVar
Risk	rs587780399(A;A)
Alt	rs587780399(A;A)
Reference	Rs587780399(G;G)
Significance	Pathogenic
Disease	Nemaline myopathy 2
Variation	info
Gene	NEB
CLNDBN	Nemaline myopathy 2, autosomal recessive
Reversed	1
HGVS	NC_000002.11:g.152534389C>T
CLNSRC
CLNACC	RCV000117756.1,