rs587780397

Orientation

minus

Stabilized

minus

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

Make rs587780397(CTTAT;GAG)

Make rs587780397(GAG;GAG)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

151553413

Gene

NEB

is a	snp
is	mentioned by
dbSNP	rs587780397
dbSNP (classic)	rs587780397
ClinGen	rs587780397
ebi	rs587780397
HLI	rs587780397
Exac	rs587780397
Gnomad	rs587780397
Varsome	rs587780397
LitVar	rs587780397
Map	rs587780397
PheGenI	rs587780397
Biobank	rs587780397
1000 genomes	rs587780397
hgdp	rs587780397
ensembl	rs587780397
geneview	rs587780397
scholar	rs587780397
google	rs587780397
pharmgkb	rs587780397
gwascentral	rs587780397
openSNP	rs587780397
23andMe	rs587780397
SNPshot	rs587780397
SNPdbe	rs587780397
MSV3d	rs587780397
GWAS Ctlg	rs587780397

Max Magnitude

0

ClinVar
Risk	rs587780397(GAG;GAG)
Alt	rs587780397(GAG;GAG)
Reference	Rs587780397(CTTAT;CTTAT)
Significance	Pathogenic
Disease	Nemaline myopathy 2
Variation	info
Gene	NEB
CLNDBN	Nemaline myopathy 2, autosomal recessive
Reversed	1
HGVS	NC_000002.11:g.152409927_152409931delATAAGinsCTC
CLNSRC
CLNACC	RCV000117719.1,