rs1057516515

Orientation

minus

Stabilized

minus

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

Make rs1057516515(-;-)

Make rs1057516515(-;CATT)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

52028019

Gene

SGCB

is a	snp
is	mentioned by
dbSNP	rs1057516515
dbSNP (classic)	rs1057516515
ClinGen	rs1057516515
ebi	rs1057516515
HLI	rs1057516515
Exac	rs1057516515
Gnomad	rs1057516515
Varsome	rs1057516515
LitVar	rs1057516515
Map	rs1057516515
PheGenI	rs1057516515
Biobank	rs1057516515
1000 genomes	rs1057516515
hgdp	rs1057516515
ensembl	rs1057516515
geneview	rs1057516515
scholar	rs1057516515
google	rs1057516515
pharmgkb	rs1057516515
gwascentral	rs1057516515
openSNP	rs1057516515
23andMe	rs1057516515
SNPshot	rs1057516515
SNPdbe	rs1057516515
MSV3d	rs1057516515
GWAS Ctlg	rs1057516515

Max Magnitude

0

ClinVar
Risk	rs1057516515(-;-)
Alt	rs1057516515(-;-)
Reference	Rs1057516515(CATT;CATT)
Significance	Probable-Pathogenic
Disease	Limb-girdle muscular dystrophy
Variation	info
Gene	SGCB
CLNDBN	Limb-girdle muscular dystrophy, type 2E
Reversed	1
HGVS	NC_000004.11:g.52894185_52894188delAATG
CLNSRC
CLNACC	RCV000410503.1,