rs1057516888

Orientation

plus

Stabilized

plus

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

Make rs1057516888(-;-)

Make rs1057516888(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

50168547

Gene	LOC105371818, SGCA

is a	snp
is	mentioned by
dbSNP	rs1057516888
dbSNP (classic)	rs1057516888
ClinGen	rs1057516888
ebi	rs1057516888
HLI	rs1057516888
Exac	rs1057516888
Gnomad	rs1057516888
Varsome	rs1057516888
LitVar	rs1057516888
Map	rs1057516888
PheGenI	rs1057516888
Biobank	rs1057516888
1000 genomes	rs1057516888
hgdp	rs1057516888
ensembl	rs1057516888
geneview	rs1057516888
scholar	rs1057516888
google	rs1057516888
pharmgkb	rs1057516888
gwascentral	rs1057516888
openSNP	rs1057516888
23andMe	rs1057516888
SNPshot	rs1057516888
SNPdbe	rs1057516888
MSV3d	rs1057516888
GWAS Ctlg	rs1057516888

Max Magnitude

0

ClinVar
Risk	rs1057516888(-;-)
Alt	rs1057516888(-;-)
Reference	Rs1057516888(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.48245908delC
CLNSRC
CLNACC	RCV000409089.1,