rs1057517142

Orientation

plus

Stabilized

plus

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

Make rs1057517142(-;-)

Make rs1057517142(-;CT)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

50168468

Gene	LOC105371818, SGCA

is a	snp
is	mentioned by
dbSNP	rs1057517142
dbSNP (classic)	rs1057517142
ClinGen	rs1057517142
ebi	rs1057517142
HLI	rs1057517142
Exac	rs1057517142
Gnomad	rs1057517142
Varsome	rs1057517142
LitVar	rs1057517142
Map	rs1057517142
PheGenI	rs1057517142
Biobank	rs1057517142
1000 genomes	rs1057517142
hgdp	rs1057517142
ensembl	rs1057517142
geneview	rs1057517142
scholar	rs1057517142
google	rs1057517142
pharmgkb	rs1057517142
gwascentral	rs1057517142
openSNP	rs1057517142
23andMe	rs1057517142
SNPshot	rs1057517142
SNPdbe	rs1057517142
MSV3d	rs1057517142
GWAS Ctlg	rs1057517142

Max Magnitude

0

ClinVar
Risk	rs1057517142(-;-)
Alt	rs1057517142(-;-)
Reference	Rs1057517142(CT;CT)
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.48245829_48245830delCT
CLNSRC
CLNACC	RCV000412176.1,