rs549794342

Orientation

plus

Stabilized

plus

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

Make rs549794342(A;A)

Make rs549794342(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

151501423

Gene

NEB, RIF1

is a	snp
is	mentioned by
dbSNP	rs549794342
dbSNP (classic)	rs549794342
ClinGen	rs549794342
ebi	rs549794342
HLI	rs549794342
Exac	rs549794342
Gnomad	rs549794342
Varsome	rs549794342
LitVar	rs549794342
Map	rs549794342
PheGenI	rs549794342
Biobank	rs549794342
1000 genomes	rs549794342
hgdp	rs549794342
ensembl	rs549794342
geneview	rs549794342
scholar	rs549794342
google	rs549794342
pharmgkb	rs549794342
gwascentral	rs549794342
openSNP	rs549794342
23andMe	rs549794342
SNPshot	rs549794342
SNPdbe	rs549794342
MSV3d	rs549794342
GWAS Ctlg	rs549794342

Max Magnitude

0

ClinVar
Risk	rs549794342(A;A)
Alt	rs549794342(A;A)
Reference	Rs549794342(G;G)
Significance	Probable-Pathogenic
Disease	Limb pain Muscular dystrophy Progressive proximal muscle weakness not provided
Variation	info
Gene	NEB
CLNDBN	Limb pain Muscular dystrophy Progressive proximal muscle weakness not provided
Reversed	0
HGVS	NC_000002.11:g.152357937G>A
CLNSRC
CLNACC	RCV000414803.1, RCV000416049.1,