rs1057516729

Orientation

plus

Stabilized

plus

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

Make rs1057516729(AG;T)

Make rs1057516729(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

50170241

Gene

SGCA

is a	snp
is	mentioned by
dbSNP	rs1057516729
dbSNP (classic)	rs1057516729
ClinGen	rs1057516729
ebi	rs1057516729
HLI	rs1057516729
Exac	rs1057516729
Gnomad	rs1057516729
Varsome	rs1057516729
LitVar	rs1057516729
Map	rs1057516729
PheGenI	rs1057516729
Biobank	rs1057516729
1000 genomes	rs1057516729
hgdp	rs1057516729
ensembl	rs1057516729
geneview	rs1057516729
scholar	rs1057516729
google	rs1057516729
pharmgkb	rs1057516729
gwascentral	rs1057516729
openSNP	rs1057516729
23andMe	rs1057516729
SNPshot	rs1057516729
SNPdbe	rs1057516729
MSV3d	rs1057516729
GWAS Ctlg	rs1057516729

Max Magnitude

0

ClinVar
Risk	rs1057516729(T;T)
Alt	rs1057516729(T;T)
Reference	Rs1057516729(AG;AG)
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.48247602_48247603delAGinsT
CLNSRC
CLNACC	RCV000411428.1,