rs137852622

Orientation

plus

Stabilized

plus

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

Make rs137852622(C;C)

Make rs137852622(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50168512

Gene	LOC105371818, SGCA

is a	snp
is	mentioned by
dbSNP	rs137852622
dbSNP (classic)	rs137852622
ClinGen	rs137852622
ebi	rs137852622
HLI	rs137852622
Exac	rs137852622
Gnomad	rs137852622
Varsome	rs137852622
LitVar	rs137852622
Map	rs137852622
PheGenI	rs137852622
Biobank	rs137852622
1000 genomes	rs137852622
hgdp	rs137852622
ensembl	rs137852622
geneview	rs137852622
scholar	rs137852622
google	rs137852622
pharmgkb	rs137852622
gwascentral	rs137852622
openSNP	rs137852622
23andMe	rs137852622
SNPshot	rs137852622
SNPdbe	rs137852622
MSV3d	rs137852622
GWAS Ctlg	rs137852622

Max Magnitude

0

OMIM	600119
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852622(C;C)
Alt	rs137852622(C;C)
Reference	Rs137852622(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.48245873T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010043.3,