Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs549794342
rs549794342
NEB ; RIF1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs58932704
rs58932704
LMNA
T 0.700 CausalMutation CLINVAR

dbSNP: rs59332535
rs59332535
LMNA
A 0.700 CausalMutation CLINVAR

dbSNP: rs60458016
rs60458016
LMNA
A 0.700 CausalMutation CLINVAR

dbSNP: rs61672878
rs61672878
LMNA
A 0.700 CausalMutation CLINVAR

dbSNP: rs746438011
rs746438011
SYNE1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs755660222
rs755660222
POMT2
A 0.700 CausalMutation CLINVAR

dbSNP: rs756015202
rs756015202
DOK7
T 0.700 CausalMutation CLINVAR

dbSNP: rs757082154
rs757082154
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs760768093
rs760768093
TTN ; TTN-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs769561386
rs769561386
LMNA
A 0.700 CausalMutation CLINVAR

dbSNP: rs770905160
rs770905160
DYSF
G 0.700 GeneticVariation CLINVAR

dbSNP: rs778768583
rs778768583
CAPN3
C 0.700 CausalMutation CLINVAR

dbSNP: rs780302064
rs780302064
LMNA
T 0.700 CausalMutation CLINVAR

dbSNP: rs781565158
rs781565158
PYROXD1
G 0.700 CausalMutation CLINVAR

dbSNP: rs797045898
rs797045898
POMT2
TCA 0.700 CausalMutation CLINVAR

dbSNP: rs80338800
rs80338800
CAPN3 ; LOC105370794
C 0.700 CausalMutation CLINVAR

dbSNP: rs886039785
rs886039785
DMD
T 0.700 GeneticVariation CLINVAR

dbSNP: rs886042108
rs886042108
CAPN3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1565930588
rs1565930588
HSPB8
T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362

2018
dbSNP: rs975757101
rs975757101
ANO5
0.010 GeneticVariation BEFREE Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping. 24239059

2014
dbSNP: rs142336618
rs142336618
GMPPB
G 0.700 CausalMutation CLINVAR Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 27147698

2016
dbSNP: rs142908436
rs142908436
GMPPB
A 0.700 GeneticVariation CLINVAR Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 27147698

2016
dbSNP: rs142336618
rs142336618
GMPPB
G 0.700 CausalMutation CLINVAR Expanding the phenotype of GMPPB mutations. 25681410

2015
dbSNP: rs116840805
rs116840805
CAV3 ; SSUH2
0.010 GeneticVariation BEFREE Expression of the muscular dystrophy-associated caveolin-3(P104L) mutant in adult mouse skeletal muscle specifically alters the Ca(2+) channel function of the dihydropyridine receptor. 18509671

2008