rs1057516650

Orientation

plus

Stabilized

plus

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

Make rs1057516650(A;G)

Make rs1057516650(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

50167945

Gene	LOC105371818, SGCA

is a	snp
is	mentioned by
dbSNP	rs1057516650
dbSNP (classic)	rs1057516650
ClinGen	rs1057516650
ebi	rs1057516650
HLI	rs1057516650
Exac	rs1057516650
Gnomad	rs1057516650
Varsome	rs1057516650
LitVar	rs1057516650
Map	rs1057516650
PheGenI	rs1057516650
Biobank	rs1057516650
1000 genomes	rs1057516650
hgdp	rs1057516650
ensembl	rs1057516650
geneview	rs1057516650
scholar	rs1057516650
google	rs1057516650
pharmgkb	rs1057516650
gwascentral	rs1057516650
openSNP	rs1057516650
23andMe	rs1057516650
SNPshot	rs1057516650
SNPdbe	rs1057516650
MSV3d	rs1057516650
GWAS Ctlg	rs1057516650

Max Magnitude

0

ClinVar
Risk	rs1057516650(G;G)
Alt	rs1057516650(G;G)
Reference	Rs1057516650(A;A)
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.48245306A>G
CLNSRC
CLNACC	RCV000410516.1,