rs1057517051

Orientation

minus

Stabilized

minus

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

Make rs1057517051(-;-)

Make rs1057517051(-;AT)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

52028799

Gene

SGCB

is a	snp
is	mentioned by
dbSNP	rs1057517051
dbSNP (classic)	rs1057517051
ClinGen	rs1057517051
ebi	rs1057517051
HLI	rs1057517051
Exac	rs1057517051
Gnomad	rs1057517051
Varsome	rs1057517051
LitVar	rs1057517051
Map	rs1057517051
PheGenI	rs1057517051
Biobank	rs1057517051
1000 genomes	rs1057517051
hgdp	rs1057517051
ensembl	rs1057517051
geneview	rs1057517051
scholar	rs1057517051
google	rs1057517051
pharmgkb	rs1057517051
gwascentral	rs1057517051
openSNP	rs1057517051
23andMe	rs1057517051
SNPshot	rs1057517051
SNPdbe	rs1057517051
MSV3d	rs1057517051
GWAS Ctlg	rs1057517051

Max Magnitude

0

ClinVar
Risk	rs1057517051(-;-)
Alt	rs1057517051(-;-)
Reference	Rs1057517051(AT;AT)
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.52894965_52894966delAT
CLNSRC
CLNACC	RCV000410084.1,