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rs28936383

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 1.5 carrier for Limb-girdle muscular dystrophy-dystroglycanopathy
(G;G) 5 Limb-girdle muscular dystrophy-dystroglycanopathy
ReferenceGRCh38 38.1/141
Chromosome4
Position52028899
GeneSGCB
is asnp
is mentioned by
dbSNPrs28936383
ebirs28936383
HLIrs28936383
Exacrs28936383
Varsomers28936383
Maprs28936383
PheGenIrs28936383
hapmaprs28936383
1000 genomesrs28936383
hgdprs28936383
ensemblrs28936383
gopubmedrs28936383
geneviewrs28936383
scholarrs28936383
googlers28936383
pharmgkbrs28936383
gwascentralrs28936383
openSNPrs28936383
23andMers28936383
23andMe allrs28936383
SNP Nexus

SNPshotrs28936383
SNPdbers28936383
MSV3drs28936383
GWAS Ctlgrs28936383
Max Magnitude5
OMIM600900
DescMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E
Variant0001
Relatedalso


ClinVar
Risk rs28936383(G;G)
Alt rs28936383(G;G)
Reference rs28936383(C;C)
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.52895065G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009250.3,