rs1057515575

Orientation

minus

Stabilized

minus

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

Make rs1057515575(C;C)

Make rs1057515575(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

151524310

Gene

NEB, RIF1

is a	snp
is	mentioned by
dbSNP	rs1057515575
dbSNP (classic)	rs1057515575
ClinGen	rs1057515575
ebi	rs1057515575
HLI	rs1057515575
Exac	rs1057515575
Gnomad	rs1057515575
Varsome	rs1057515575
LitVar	rs1057515575
Map	rs1057515575
PheGenI	rs1057515575
Biobank	rs1057515575
1000 genomes	rs1057515575
hgdp	rs1057515575
ensembl	rs1057515575
geneview	rs1057515575
scholar	rs1057515575
google	rs1057515575
pharmgkb	rs1057515575
gwascentral	rs1057515575
openSNP	rs1057515575
23andMe	rs1057515575
SNPshot	rs1057515575
SNPdbe	rs1057515575
MSV3d	rs1057515575
GWAS Ctlg	rs1057515575

Max Magnitude

0

ClinVar
Risk	rs1057515575(C;C)
Alt	rs1057515575(C;C)
Reference	Rs1057515575(G;G)
Significance	Pathogenic
Disease	Nemaline myopathy 2
Variation	info
Gene	NEB
CLNDBN	Nemaline myopathy 2
Reversed	1
HGVS	NC_000002.11:g.152380824C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015095.26,