rs28933693

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

17

Position

50167653

Gene	LOC105371818, SGCA

is a	snp
is	mentioned by
dbSNP	rs28933693
dbSNP (classic)	rs28933693
ClinGen	rs28933693
ebi	rs28933693
HLI	rs28933693
Exac	rs28933693
Gnomad	rs28933693
Varsome	rs28933693
LitVar	rs28933693
Map	rs28933693
PheGenI	rs28933693
Biobank	rs28933693
1000 genomes	rs28933693
hgdp	rs28933693
ensembl	rs28933693
geneview	rs28933693
scholar	rs28933693
google	rs28933693
pharmgkb	rs28933693
gwascentral	rs28933693
openSNP	rs28933693
23andMe	rs28933693
SNPshot	rs28933693
SNPdbe	rs28933693
MSV3d	rs28933693
GWAS Ctlg	rs28933693

GMAF

0.001377

Max Magnitude

5

aka c.229C>T (p.Arg77Cys or R77C)

OMIM	600119
Desc	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D
Variant	0003
Related	also

ClinVar
Risk	Rs28933693(T;T)
Alt	Rs28933693(T;T)
Reference	Rs28933693(C;C)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy not provided
Variation	info
Gene	SGCA
CLNDBN	Limb-girdle muscular dystrophy, type 2D not provided
Reversed	0
HGVS	NC_000017.10:g.48245014C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010044.8, RCV000077937.4,