rs143570936

Orientation

plus

Stabilized

plus

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

Make rs143570936(A;A)

Make rs143570936(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

50169246

Gene

SGCA

is a	snp
is	mentioned by
dbSNP	rs143570936
dbSNP (classic)	rs143570936
ClinGen	rs143570936
ebi	rs143570936
HLI	rs143570936
Exac	rs143570936
Gnomad	rs143570936
Varsome	rs143570936
LitVar	rs143570936
Map	rs143570936
PheGenI	rs143570936
Biobank	rs143570936
1000 genomes	rs143570936
hgdp	rs143570936
ensembl	rs143570936
geneview	rs143570936
scholar	rs143570936
google	rs143570936
pharmgkb	rs143570936
gwascentral	rs143570936
openSNP	rs143570936
23andMe	rs143570936
SNPshot	rs143570936
SNPdbe	rs143570936
MSV3d	rs143570936
GWAS Ctlg	rs143570936

Max Magnitude

0

ClinVar
Risk	rs143570936(A;A)
Alt	rs143570936(A;A)
Reference	Rs143570936(G;G)
Significance	Pathogenic
Disease	not provided Limb-girdle muscular dystrophy
Variation	info
Gene	SGCA
CLNDBN	not provided Limb-girdle muscular dystrophy, type 2D
Reversed	0
HGVS	NC_000017.10:g.48246607G>A
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000153938.2, RCV000179241.3,