Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs547818652
rs547818652
SGCG ; LOC107984585
C 0.700 GeneticVariation CLINVAR Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle. 25605665

2015
dbSNP: rs547818652
rs547818652
SGCG ; LOC107984585
C 0.700 GeneticVariation CLINVAR Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 22095924

2012
dbSNP: rs547818652
rs547818652
SGCG ; LOC107984585
C 0.700 GeneticVariation CLINVAR Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T. 19770540

2009
dbSNP: rs547818652
rs547818652
SGCG ; LOC107984585
C 0.700 GeneticVariation CLINVAR A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy. 9673983

1998
dbSNP: rs547818652
rs547818652
SGCG ; LOC107984585
C 0.700 CausalMutation CLINVAR