Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918459
rs121918459
G 0.700 CausalMutation CLINVAR

dbSNP: rs138977195
rs138977195
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555876283
rs1555876283
T 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs1569548274
rs1569548274
T 0.700 CausalMutation CLINVAR

dbSNP: rs398123383
rs398123383
T 0.700 CausalMutation CLINVAR

dbSNP: rs776974834
rs776974834
G 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs781565158
rs781565158
G 0.700 CausalMutation CLINVAR

dbSNP: rs878855327
rs878855327
C 0.700 CausalMutation CLINVAR

dbSNP: rs1048379601
rs1048379601
DMD
0.010 GeneticVariation BEFREE Here we report on a 4-year-old girl presenting with myalgia and muscle cramps due to a caveolin-3 deficiency in her dystrophic skeletal muscle as a result of a heterozygous 136G-->A substitution in the caveolin-3 gene. 11001938

2000

dbSNP: rs116840789
rs116840789
0.010 GeneticVariation BEFREE Here we report on a 4-year-old girl presenting with myalgia and muscle cramps due to a caveolin-3 deficiency in her dystrophic skeletal muscle as a result of a heterozygous 136G-->A substitution in the caveolin-3 gene. 11001938

2000

dbSNP: rs1263071018
rs1263071018
0.010 GeneticVariation BEFREE Here we report on a 4-year-old girl presenting with myalgia and muscle cramps due to a caveolin-3 deficiency in her dystrophic skeletal muscle as a result of a heterozygous 136G-->A substitution in the caveolin-3 gene. 11001938

2000

dbSNP: rs759411064
rs759411064
0.010 GeneticVariation BEFREE Here we report on a 4-year-old girl presenting with myalgia and muscle cramps due to a caveolin-3 deficiency in her dystrophic skeletal muscle as a result of a heterozygous 136G-->A substitution in the caveolin-3 gene. 11001938

2000

dbSNP: rs7924316
rs7924316
0.010 GeneticVariation BEFREE We found that men who were 1) homozygous for the rare IGF-II C13790G allele and rare allele for the ApaI (G17200A) SNP demonstrated the greatest strength loss immediately after exercise, greatest soreness, and highest postexercise serum CK activity; 2) homozygous wild type for IGF2AS (G11711T, rs7924316) had the greatest strength loss and most muscle soreness; and 3) homozygous wild type for the IGF2AS G11711T SNP showed the greatest strength loss, highest muscle soreness, and greater CK and myoglobin response to exercise. 17289909

2007

dbSNP: rs1187636039
rs1187636039
0.010 GeneticVariation BEFREE In the family assessed, the p.D294E mutation segregated in association with a particular sensitivity to cold exposure (especially arthralgias and myalgia), but not always with an inflammatory phenotype (e.g., urticarial rash or fever). 21360512

2011

dbSNP: rs147080557
rs147080557
0.010 GeneticVariation BEFREE In the family assessed, the p.D294E mutation segregated in association with a particular sensitivity to cold exposure (especially arthralgias and myalgia), but not always with an inflammatory phenotype (e.g., urticarial rash or fever). 21360512

2011

dbSNP: rs4149056
rs4149056
0.020 GeneticVariation BEFREE No association of the SLCO1B1 rs2306283 and rs4149056 genotypes or haplotypes with the presence of myalgia or creatine kinase (CK) values was found. 21928084

2012

dbSNP: rs2306283
rs2306283
0.010 GeneticVariation BEFREE No association of the SLCO1B1 rs2306283 and rs4149056 genotypes or haplotypes with the presence of myalgia or creatine kinase (CK) values was found. 21928084

2012

dbSNP: rs61752717
rs61752717
0.020 GeneticVariation BEFREE Acute orchitis and protracted febrile myalgia as rare clinical findings were more common in M694V homozygotes. 22057232

2012

dbSNP: rs4149056
rs4149056
0.020 GeneticVariation BEFREE We evaluated the effect of rs4363657 and rs4149056 in SLCO1B1, which encodes organic anion-transporting polypeptide OATP1B1, a regulator of hepatic statin uptake, on clinically reported myalgia. 23708174

2013

dbSNP: rs61752717
rs61752717
0.020 GeneticVariation BEFREE Group 1 had significantly higher rate of myalgia, arthritis/arthralgia, erysipelas like erythema, amyloidosis, protracted febrile myalgia and M694V mutation compared with Group 2. 25669438

2015

dbSNP: rs4363657
rs4363657
0.010 GeneticVariation BEFREE SLCO1B1 tagging rs4363657 polymorphism was analyzed in 2 groups of patients with dyslipidemia (treated with simvastatin or atorvastatin, 10 or 20 mg per day), subgroup with statin-induced myalgia (N=286), and subgroup (N=707) without myalgia/myopathy, and in 2301 population controls without lipid-lowering treatment. 25992810

2015

dbSNP: rs12722
rs12722
0.010 GeneticVariation BEFREE We found that COL1A1 (minor) T-allele carriers ( rs1800012 ) and (major) T-allele homozygotes ( rs2249492 ) were generally weaker ( P ≤ 0.019); and (minor) A-allele carriers of COL2A1 ( P = 0.002) and (major) T-allele carriers of COL5A1 ( P = 0.004) SNPs reported greater muscle soreness, all compared with their respective major ( rs1800012 ; rs2070739 ) and minor ( rs2249492 ; rs12722 ) allele homozygote counterparts. 29799806

2018

dbSNP: rs1800012
rs1800012
0.010 GeneticVariation BEFREE We found that COL1A1 (minor) T-allele carriers ( rs1800012 ) and (major) T-allele homozygotes ( rs2249492 ) were generally weaker ( P ≤ 0.019); and (minor) A-allele carriers of COL2A1 ( P = 0.002) and (major) T-allele carriers of COL5A1 ( P = 0.004) SNPs reported greater muscle soreness, all compared with their respective major ( rs1800012 ; rs2070739 ) and minor ( rs2249492 ; rs12722 ) allele homozygote counterparts. 29799806

2018

dbSNP: rs2249492
rs2249492
0.010 GeneticVariation BEFREE We found that COL1A1 (minor) T-allele carriers ( rs1800012 ) and (major) T-allele homozygotes ( rs2249492 ) were generally weaker ( P ≤ 0.019); and (minor) A-allele carriers of COL2A1 ( P = 0.002) and (major) T-allele carriers of COL5A1 ( P = 0.004) SNPs reported greater muscle soreness, all compared with their respective major ( rs1800012 ; rs2070739 ) and minor ( rs2249492 ; rs12722 ) allele homozygote counterparts. 29799806

2018