rs796065319

Orientation

minus

Stabilized

minus

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

Make rs796065319(-;A)

Make rs796065319(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

4

Position

52038227

Gene

SGCB

is a	snp
is	mentioned by
dbSNP	rs796065319
dbSNP (classic)	rs796065319
ClinGen	rs796065319
ebi	rs796065319
HLI	rs796065319
Exac	rs796065319
Gnomad	rs796065319
Varsome	rs796065319
LitVar	rs796065319
Map	rs796065319
PheGenI	rs796065319
Biobank	rs796065319
1000 genomes	rs796065319
hgdp	rs796065319
ensembl	rs796065319
geneview	rs796065319
scholar	rs796065319
google	rs796065319
pharmgkb	rs796065319
gwascentral	rs796065319
openSNP	rs796065319
23andMe	rs796065319
SNPshot	rs796065319
SNPdbe	rs796065319
MSV3d	rs796065319
GWAS Ctlg	rs796065319

Max Magnitude

0

ClinVar
Risk	rs796065319(A;A)
Alt	rs796065319(A;A)
Reference	Rs796065319(-;-)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy
Variation	info
Gene	SGCB
CLNDBN	Limb-girdle muscular dystrophy, type 2E
Reversed	1
HGVS	NC_000004.11:g.52904394dupT
CLNSRC
CLNACC	RCV000173088.1,