rs1057516242

Orientation

plus

Stabilized

plus

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

Make rs1057516242(C;T)

Make rs1057516242(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

50168499

Gene	LOC105371818, SGCA

is a	snp
is	mentioned by
dbSNP	rs1057516242
dbSNP (classic)	rs1057516242
ClinGen	rs1057516242
ebi	rs1057516242
HLI	rs1057516242
Exac	rs1057516242
Gnomad	rs1057516242
Varsome	rs1057516242
LitVar	rs1057516242
Map	rs1057516242
PheGenI	rs1057516242
Biobank	rs1057516242
1000 genomes	rs1057516242
hgdp	rs1057516242
ensembl	rs1057516242
geneview	rs1057516242
scholar	rs1057516242
google	rs1057516242
pharmgkb	rs1057516242
gwascentral	rs1057516242
openSNP	rs1057516242
23andMe	rs1057516242
SNPshot	rs1057516242
SNPdbe	rs1057516242
MSV3d	rs1057516242
GWAS Ctlg	rs1057516242

Max Magnitude

0

ClinVar
Risk	rs1057516242(T;T)
Alt	rs1057516242(T;T)
Reference	Rs1057516242(C;C)
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.48245860C>T
CLNSRC
CLNACC	RCV000410603.1,