rs1057516244

Orientation

plus

Stabilized

plus

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

Make rs1057516244(-;G)

Make rs1057516244(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

50168476

Gene	LOC105371818, SGCA

is a	snp
is	mentioned by
dbSNP	rs1057516244
dbSNP (classic)	rs1057516244
ClinGen	rs1057516244
ebi	rs1057516244
HLI	rs1057516244
Exac	rs1057516244
Gnomad	rs1057516244
Varsome	rs1057516244
LitVar	rs1057516244
Map	rs1057516244
PheGenI	rs1057516244
Biobank	rs1057516244
1000 genomes	rs1057516244
hgdp	rs1057516244
ensembl	rs1057516244
geneview	rs1057516244
scholar	rs1057516244
google	rs1057516244
pharmgkb	rs1057516244
gwascentral	rs1057516244
openSNP	rs1057516244
23andMe	rs1057516244
SNPshot	rs1057516244
SNPdbe	rs1057516244
MSV3d	rs1057516244
GWAS Ctlg	rs1057516244

Max Magnitude

0

ClinVar
Risk	rs1057516244(G;G)
Alt	rs1057516244(G;G)
Reference	Rs1057516244(-;-)
Significance	Probable-Pathogenic
Disease	Limb-girdle muscular dystrophy
Variation	info
Gene	SGCA
CLNDBN	Limb-girdle muscular dystrophy, type 2D
Reversed	0
HGVS	NC_000017.10:g.48245837dupG
CLNSRC
CLNACC	RCV000410508.1,