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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
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs28933693
dbSNP (classic)rs28933693
ClinGenrs28933693
ebirs28933693
HLIrs28933693
Exacrs28933693
Gnomadrs28933693
Varsomers28933693
LitVarrs28933693
Maprs28933693
PheGenIrs28933693
Biobankrs28933693
1000 genomesrs28933693
hgdprs28933693
ensemblrs28933693
geneviewrs28933693
scholarrs28933693
googlers28933693
pharmgkbrs28933693
gwascentralrs28933693
openSNPrs28933693
23andMers28933693
SNPshotrs28933693
SNPdbers28933693
MSV3drs28933693
GWAS Ctlgrs28933693
GMAF0.001377
Max Magnitude5

aka c.229C>T (p.Arg77Cys or R77C)

OMIM600119
DescMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D
Variant0003
Relatedalso


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 UniProtKB (protein)
CLNACC RCV000010044.8, RCV000077937.4,