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: rs72554656
rs72554656
ATP7A ; PGK1
0.010 GeneticVariation BEFREE In the first patient with the MD phenotype, a mutation within the exon 20 (Gln1288Ter) was found producing a stop codon just prior to the highly conserved ATP binding domain. 11936860

2001
dbSNP: rs58034145
rs58034145
LMNA
0.010 GeneticVariation BEFREE Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies. 15548545

2005
dbSNP: rs28933693
rs28933693
SGCA ; LOC105371818
0.010 GeneticVariation BEFREE Our results emphasize the need to include the SGCA gene R77C mutation test in routine DNA analyses of severe dystrophinopathy-like muscular dystrophies in Finland, and suggest that the applicability of this test in other populations should be studied as well. 15736300

2005
dbSNP: rs376510500
rs376510500
TGM2
0.010 GeneticVariation BEFREE Our results emphasize the need to include the SGCA gene R77C mutation test in routine DNA analyses of severe dystrophinopathy-like muscular dystrophies in Finland, and suggest that the applicability of this test in other populations should be studied as well. 15736300

2005
dbSNP: rs121908457
rs121908457
MYOT ; LOC101928005
0.010 GeneticVariation BEFREE Interestingly, all three analyzed myotilin missense mutations (S55F, S60F and S60C) do not lead to gross changes in the total amount of myotilin or to aberrant posttranslational modifications in diseased muscle, as observed in a number of muscular dystrophies. 16684602

2006
dbSNP: rs121908458
rs121908458
MYOT ; LOC101928005
0.010 GeneticVariation BEFREE Interestingly, all three analyzed myotilin missense mutations (S55F, S60F and S60C) do not lead to gross changes in the total amount of myotilin or to aberrant posttranslational modifications in diseased muscle, as observed in a number of muscular dystrophies. 16684602

2006