rs28936383

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	1.5	carrier for Limb-girdle muscular dystrophy-dystroglycanopathy
(G;G)	5	Limb-girdle muscular dystrophy-dystroglycanopathy

Reference

GRCh38 38.1/141

Chromosome

4

Position

52028899

Gene

SGCB

is a	snp
is	mentioned by
dbSNP	rs28936383
dbSNP (classic)	rs28936383
ClinGen	rs28936383
ebi	rs28936383
HLI	rs28936383
Exac	rs28936383
Gnomad	rs28936383
Varsome	rs28936383
LitVar	rs28936383
Map	rs28936383
PheGenI	rs28936383
Biobank	rs28936383
1000 genomes	rs28936383
hgdp	rs28936383
ensembl	rs28936383
geneview	rs28936383
scholar	rs28936383
google	rs28936383
pharmgkb	rs28936383
gwascentral	rs28936383
openSNP	rs28936383
23andMe	rs28936383
SNPshot	rs28936383
SNPdbe	rs28936383
MSV3d	rs28936383
GWAS Ctlg	rs28936383

Max Magnitude

5

OMIM	600900
Desc	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E
Variant	0001
Related	also

ClinVar
Risk	Rs28936383(G;G)
Alt	Rs28936383(G;G)
Reference	Rs28936383(C;C)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy
Variation	info
Gene	SGCB
CLNDBN	Limb-girdle muscular dystrophy, type 2E
Reversed	1
HGVS	NC_000004.11:g.52895065G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009250.3,