rs1057517064

Orientation

minus

Stabilized

minus

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

Make rs1057517064(-;-)

Make rs1057517064(-;AACAG)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

52038227

Gene

SGCB

is a	snp
is	mentioned by
dbSNP	rs1057517064
dbSNP (classic)	rs1057517064
ClinGen	rs1057517064
ebi	rs1057517064
HLI	rs1057517064
Exac	rs1057517064
Gnomad	rs1057517064
Varsome	rs1057517064
LitVar	rs1057517064
Map	rs1057517064
PheGenI	rs1057517064
Biobank	rs1057517064
1000 genomes	rs1057517064
hgdp	rs1057517064
ensembl	rs1057517064
geneview	rs1057517064
scholar	rs1057517064
google	rs1057517064
pharmgkb	rs1057517064
gwascentral	rs1057517064
openSNP	rs1057517064
23andMe	rs1057517064
SNPshot	rs1057517064
SNPdbe	rs1057517064
MSV3d	rs1057517064
GWAS Ctlg	rs1057517064

Max Magnitude

0

ClinVar
Risk	rs1057517064(-;-)
Alt	rs1057517064(-;-)
Reference	Rs1057517064(AACAG;AACAG)
Significance	Probable-Pathogenic
Disease	Limb-girdle muscular dystrophy
Variation	info
Gene	SGCB
CLNDBN	Limb-girdle muscular dystrophy, type 2E
Reversed	1
HGVS	NC_000004.11:g.52904393_52904397delCTGTT
CLNSRC
CLNACC	RCV000411494.1,