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rs28933693

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 1.5 carrier for Limb-girdle muscular dystrophy-dystroglycanopathy
(T;T) 5 Limb-girdle muscular dystrophy-dystroglycanopathy
ReferenceGRCh38 38.1/141
Chromosome17
Position50167653
GeneSGCA
is asnp
is mentioned by
dbSNPrs28933693
ebirs28933693
HLIrs28933693
Exacrs28933693
Varsomers28933693
Maprs28933693
PheGenIrs28933693
hapmaprs28933693
1000 genomesrs28933693
hgdprs28933693
ensemblrs28933693
gopubmedrs28933693
geneviewrs28933693
scholarrs28933693
googlers28933693
pharmgkbrs28933693
gwascentralrs28933693
openSNPrs28933693
23andMers28933693
23andMe allrs28933693
SNP Nexus

SNPshotrs28933693
SNPdbers28933693
MSV3drs28933693
GWAS Ctlgrs28933693
GMAF0.001377
Max Magnitude5
OMIM600119
DescMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D
Variant0003
Relatedalso
Neighborrs28933694
Distance745


ClinVar
Risk rs28933693(T;T)
Alt rs28933693(T;T)
Reference rs28933693(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy not provided
Variation info
Gene SGCA
CLNDBN Limb-girdle muscular dystrophy, type 2D not provided
Reversed 0
HGVS NC_000017.10:g.48245014C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000010044.6, RCV000077937.3,



GET Evidence
SGCA-R77C
aa_change Arg77Cys
aa_change_short R77C
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.00046477
summary Limb Girdle Muscular Dystrophy