rs1057516300

Orientation

plus

Stabilized

plus

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

Make rs1057516300(A;G)

Make rs1057516300(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

50167580

Gene	LOC105371818, SGCA

is a	snp
is	mentioned by
dbSNP	rs1057516300
dbSNP (classic)	rs1057516300
ClinGen	rs1057516300
ebi	rs1057516300
HLI	rs1057516300
Exac	rs1057516300
Gnomad	rs1057516300
Varsome	rs1057516300
LitVar	rs1057516300
Map	rs1057516300
PheGenI	rs1057516300
Biobank	rs1057516300
1000 genomes	rs1057516300
hgdp	rs1057516300
ensembl	rs1057516300
geneview	rs1057516300
scholar	rs1057516300
google	rs1057516300
pharmgkb	rs1057516300
gwascentral	rs1057516300
openSNP	rs1057516300
23andMe	rs1057516300
SNPshot	rs1057516300
SNPdbe	rs1057516300
MSV3d	rs1057516300
GWAS Ctlg	rs1057516300

Max Magnitude

0

ClinVar
Risk	rs1057516300(G;G)
Alt	rs1057516300(G;G)
Reference	Rs1057516300(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.48244941A>G
CLNSRC
CLNACC	RCV000409677.1,