rs752492870

Orientation

plus

Stabilized

plus

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

Make rs752492870(C;C)

Make rs752492870(C;G)

Reference

GRCh38.p7 38.3/149

Chromosome

4

Position

52038229

Gene

SGCB

is a	snp
is	mentioned by
dbSNP	rs752492870
dbSNP (classic)	rs752492870
ClinGen	rs752492870
ebi	rs752492870
HLI	rs752492870
Exac	rs752492870
Gnomad	rs752492870
Varsome	rs752492870
LitVar	rs752492870
Map	rs752492870
PheGenI	rs752492870
Biobank	rs752492870
1000 genomes	rs752492870
hgdp	rs752492870
ensembl	rs752492870
geneview	rs752492870
scholar	rs752492870
google	rs752492870
pharmgkb	rs752492870
gwascentral	rs752492870
openSNP	rs752492870
23andMe	rs752492870
SNPshot	rs752492870
SNPdbe	rs752492870
MSV3d	rs752492870
GWAS Ctlg	rs752492870

Max Magnitude

0

ClinVar
Risk	rs752492870(A;A) rs752492870(C;C)
Alt	rs752492870(A;A) rs752492870(C;C)
Reference	Rs752492870(G;G)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy Limb-Girdle Muscular Dystrophy Beta-sarcoglycanopathy not specified
Variation	info
Gene	SGCB
CLNDBN	Limb-girdle muscular dystrophy, type 2E Limb-Girdle Muscular Dystrophy, Recessive Beta-sarcoglycanopathy not specified
Reversed	0
HGVS	NC_000004.11:g.52904395G>A; NC_000004.11:g.52904395G>C
CLNSRC	Illumina
CLNACC	RCV000315588.1, RCV000353900.1, RCV000261367.1, RCV000399677.1,