rs1057516597

Orientation

minus

Stabilized

minus

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

Make rs1057516597(-;-)

Make rs1057516597(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

36223372

Gene

GNE

is a	snp
is	mentioned by
dbSNP	rs1057516597
dbSNP (classic)	rs1057516597
ClinGen	rs1057516597
ebi	rs1057516597
HLI	rs1057516597
Exac	rs1057516597
Gnomad	rs1057516597
Varsome	rs1057516597
LitVar	rs1057516597
Map	rs1057516597
PheGenI	rs1057516597
Biobank	rs1057516597
1000 genomes	rs1057516597
hgdp	rs1057516597
ensembl	rs1057516597
geneview	rs1057516597
scholar	rs1057516597
google	rs1057516597
pharmgkb	rs1057516597
gwascentral	rs1057516597
openSNP	rs1057516597
23andMe	rs1057516597
SNPshot	rs1057516597
SNPdbe	rs1057516597
MSV3d	rs1057516597
GWAS Ctlg	rs1057516597

Max Magnitude

0

ClinVar
Risk	rs1057516597(-;-)
Alt	rs1057516597(-;-)
Reference	Rs1057516597(G;G)
Significance	Probable-Pathogenic
Disease	Inclusion body myopathy 2
Variation	info
Gene	GNE
CLNDBN	Inclusion body myopathy 2
Reversed	1
HGVS	NC_000009.11:g.36223369delC
CLNSRC
CLNACC	RCV000411440.1,