rs104893869

Orientation

minus

Stabilized

minus

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

Make rs104893869(C;C)

Make rs104893869(C;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

52029835

Gene

SGCB

is a	snp
is	mentioned by
dbSNP	rs104893869
dbSNP (classic)	rs104893869
ClinGen	rs104893869
ebi	rs104893869
HLI	rs104893869
Exac	rs104893869
Gnomad	rs104893869
Varsome	rs104893869
LitVar	rs104893869
Map	rs104893869
PheGenI	rs104893869
Biobank	rs104893869
1000 genomes	rs104893869
hgdp	rs104893869
ensembl	rs104893869
geneview	rs104893869
scholar	rs104893869
google	rs104893869
pharmgkb	rs104893869
gwascentral	rs104893869
openSNP	rs104893869
23andMe	rs104893869
SNPshot	rs104893869
SNPdbe	rs104893869
MSV3d	rs104893869
GWAS Ctlg	rs104893869

Merged from

Rs28936384

Max Magnitude

0

OMIM	600900
Desc
Variant	0008
Related	also

OMIM	600900
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104893869(A;A) rs104893869(C;C) rs104893869(T;T)
Alt	rs104893869(A;A) rs104893869(C;C) rs104893869(T;T)
Reference	Rs104893869(G;G)
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.52896001C>A; NC_000004.11:g.52896001C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009257.4, RCV000009254.3,