rs398124172

Orientation

minus

Stabilized

minus

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

Make rs398124172(-;-)

Make rs398124172(-;AAATAAACGAG)

Reference

GRCh38 38.1/141

Chromosome

2

Position

151643269

Gene

NEB

is a	snp
is	mentioned by
dbSNP	rs398124172
dbSNP (classic)	rs398124172
ClinGen	rs398124172
ebi	rs398124172
HLI	rs398124172
Exac	rs398124172
Gnomad	rs398124172
Varsome	rs398124172
LitVar	rs398124172
Map	rs398124172
PheGenI	rs398124172
Biobank	rs398124172
1000 genomes	rs398124172
hgdp	rs398124172
ensembl	rs398124172
geneview	rs398124172
scholar	rs398124172
google	rs398124172
pharmgkb	rs398124172
gwascentral	rs398124172
openSNP	rs398124172
23andMe	rs398124172
SNPshot	rs398124172
SNPdbe	rs398124172
MSV3d	rs398124172
GWAS Ctlg	rs398124172

Max Magnitude

0

ClinVar
Risk	rs398124172(-;-)
Alt	rs398124172(-;-)
Reference	Rs398124172(AAATAAACGAG;AAATAAACGAG)
Significance	Other
Disease	not provided Nemaline myopathy 2
Variation	info
Gene	NEB
CLNDBN	not provided Nemaline myopathy 2
Reversed	1
HGVS	NC_000002.11:g.152499783_152499793delCTCGTTTATTT
CLNSRC	HGMD
CLNACC	RCV000081144.3, RCV000179210.1,