rs1057517107

Orientation

plus

Stabilized

plus

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

Make rs1057517107(-;-)

Make rs1057517107(-;CATGGCTGAG)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

50166040

Gene	LOC105371818, SGCA

is a	snp
is	mentioned by
dbSNP	rs1057517107
dbSNP (classic)	rs1057517107
ClinGen	rs1057517107
ebi	rs1057517107
HLI	rs1057517107
Exac	rs1057517107
Gnomad	rs1057517107
Varsome	rs1057517107
LitVar	rs1057517107
Map	rs1057517107
PheGenI	rs1057517107
Biobank	rs1057517107
1000 genomes	rs1057517107
hgdp	rs1057517107
ensembl	rs1057517107
geneview	rs1057517107
scholar	rs1057517107
google	rs1057517107
pharmgkb	rs1057517107
gwascentral	rs1057517107
openSNP	rs1057517107
23andMe	rs1057517107
SNPshot	rs1057517107
SNPdbe	rs1057517107
MSV3d	rs1057517107
GWAS Ctlg	rs1057517107

Max Magnitude

0

ClinVar
Risk	rs1057517107(-;-)
Alt	rs1057517107(-;-)
Reference	Rs1057517107(CATGGCTGAG;CATGGCTGAG)
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.48243401_48243410delCATGGCTGAG
CLNSRC
CLNACC	RCV000411207.1,