rs143962150

Orientation

plus

Stabilized

plus

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

Make rs143962150(C;C)

Make rs143962150(C;T)

Reference

GRCh38.p7 38.3/149

Chromosome

17

Position

50168506

Gene	LOC105371818, SGCA

is a	snp
is	mentioned by
dbSNP	rs143962150
dbSNP (classic)	rs143962150
ClinGen	rs143962150
ebi	rs143962150
HLI	rs143962150
Exac	rs143962150
Gnomad	rs143962150
Varsome	rs143962150
LitVar	rs143962150
Map	rs143962150
PheGenI	rs143962150
Biobank	rs143962150
1000 genomes	rs143962150
hgdp	rs143962150
ensembl	rs143962150
geneview	rs143962150
scholar	rs143962150
google	rs143962150
pharmgkb	rs143962150
gwascentral	rs143962150
openSNP	rs143962150
23andMe	rs143962150
SNPshot	rs143962150
SNPdbe	rs143962150
MSV3d	rs143962150
GWAS Ctlg	rs143962150

Max Magnitude

0

ClinVar
Risk	rs143962150(C;C)
Alt	rs143962150(C;C)
Reference	Rs143962150(T;T)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy
Variation	info
Gene	SGCA
CLNDBN	Limb-girdle muscular dystrophy, type 2D
Reversed	0
HGVS	NC_000017.10:g.48245867T>C
CLNSRC
CLNACC	RCV000284145.1,