rs1057516548

Orientation

plus

Stabilized

plus

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

Make rs1057516548(-;-)

Make rs1057516548(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

50170150

Gene

SGCA

is a	snp
is	mentioned by
dbSNP	rs1057516548
dbSNP (classic)	rs1057516548
ClinGen	rs1057516548
ebi	rs1057516548
HLI	rs1057516548
Exac	rs1057516548
Gnomad	rs1057516548
Varsome	rs1057516548
LitVar	rs1057516548
Map	rs1057516548
PheGenI	rs1057516548
Biobank	rs1057516548
1000 genomes	rs1057516548
hgdp	rs1057516548
ensembl	rs1057516548
geneview	rs1057516548
scholar	rs1057516548
google	rs1057516548
pharmgkb	rs1057516548
gwascentral	rs1057516548
openSNP	rs1057516548
23andMe	rs1057516548
SNPshot	rs1057516548
SNPdbe	rs1057516548
MSV3d	rs1057516548
GWAS Ctlg	rs1057516548

Max Magnitude

0

ClinVar
Risk	rs1057516548(-;-)
Alt	rs1057516548(-;-)
Reference	Rs1057516548(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.48247511delA
CLNSRC
CLNACC	RCV000410962.1,