rs104893871

Orientation

minus

Stabilized

minus

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

Make rs104893871(A;A)

Make rs104893871(A;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

52029808

Gene

SGCB

is a	snp
is	mentioned by
dbSNP	rs104893871
dbSNP (classic)	rs104893871
ClinGen	rs104893871
ebi	rs104893871
HLI	rs104893871
Exac	rs104893871
Gnomad	rs104893871
Varsome	rs104893871
LitVar	rs104893871
Map	rs104893871
PheGenI	rs104893871
Biobank	rs104893871
1000 genomes	rs104893871
hgdp	rs104893871
ensembl	rs104893871
geneview	rs104893871
scholar	rs104893871
google	rs104893871
pharmgkb	rs104893871
gwascentral	rs104893871
openSNP	rs104893871
23andMe	rs104893871
SNPshot	rs104893871
SNPdbe	rs104893871
MSV3d	rs104893871
GWAS Ctlg	rs104893871

Merged from

Rs28936386

Max Magnitude

0

OMIM	600900
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104893871(A;A)
Alt	rs104893871(A;A)
Reference	Rs104893871(T;T)
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.52895974A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009256.5,