rs780596734

Orientation

plus

Stabilized

plus

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

Make rs780596734(C;C)

Make rs780596734(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

52028101

Gene

SGCB

is a	snp
is	mentioned by
dbSNP	rs780596734
dbSNP (classic)	rs780596734
ClinGen	rs780596734
ebi	rs780596734
HLI	rs780596734
Exac	rs780596734
Gnomad	rs780596734
Varsome	rs780596734
LitVar	rs780596734
Map	rs780596734
PheGenI	rs780596734
Biobank	rs780596734
1000 genomes	rs780596734
hgdp	rs780596734
ensembl	rs780596734
geneview	rs780596734
scholar	rs780596734
google	rs780596734
pharmgkb	rs780596734
gwascentral	rs780596734
openSNP	rs780596734
23andMe	rs780596734
SNPshot	rs780596734
SNPdbe	rs780596734
MSV3d	rs780596734
GWAS Ctlg	rs780596734

Max Magnitude

0

ClinVar
Risk	rs780596734(C;C)
Alt	rs780596734(C;C)
Reference	Rs780596734(T;T)
Significance	Probable-Pathogenic
Disease	Limb-girdle muscular dystrophy
Variation	info
Gene	SGCB
CLNDBN	Limb-girdle muscular dystrophy, type 2E
Reversed	0
HGVS	NC_000004.11:g.52894267T>C
CLNSRC
CLNACC	RCV000411845.1,