rs137852623

Orientation

plus

Stabilized

plus

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

Make rs137852623(C;T)

Make rs137852623(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50170245

Gene

SGCA

is a	snp
is	mentioned by
dbSNP	rs137852623
dbSNP (classic)	rs137852623
ClinGen	rs137852623
ebi	rs137852623
HLI	rs137852623
Exac	rs137852623
Gnomad	rs137852623
Varsome	rs137852623
LitVar	rs137852623
Map	rs137852623
PheGenI	rs137852623
Biobank	rs137852623
1000 genomes	rs137852623
hgdp	rs137852623
ensembl	rs137852623
geneview	rs137852623
scholar	rs137852623
google	rs137852623
pharmgkb	rs137852623
gwascentral	rs137852623
openSNP	rs137852623
23andMe	rs137852623
SNPshot	rs137852623
SNPdbe	rs137852623
MSV3d	rs137852623
GWAS Ctlg	rs137852623

GMAF

0.0004591

Max Magnitude

0

OMIM	600119
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137852623(G;G) rs137852623(T;T)
Alt	rs137852623(G;G) rs137852623(T;T)
Reference	Rs137852623(C;C)
Significance	Other
Disease	Limb-girdle muscular dystrophy
Variation	info
Gene	SGCA
CLNDBN	Limb-girdle muscular dystrophy, type 2D
Reversed	0
HGVS	NC_000017.10:g.48247606C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010046.5,