Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894312
rs104894312
TNNI2 ; LOC107984299
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554289078
rs1554289078
KLHL7
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555242493
rs1555242493
MYBPC1 ; LOC105369937
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555621138
rs1555621138
PIEZO2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555769818
rs1555769818
RYR1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555788577
rs1555788577
RYR1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs770374710
rs770374710
MAGEL2
TG 0.700 CausalMutation CLINVAR

dbSNP: rs797045727
rs797045727
MYH3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs80338903
rs80338903
USH2A
T 0.700 CausalMutation CLINVAR

dbSNP: rs137853305
rs137853305
TPM2
0.020 GeneticVariation BEFREE Hence, we recorded and analyzed the X-ray diffraction patterns of human membrane-permeabilized muscle cells expressing a particular beta-tropomyosin mutation (R133W) associated with a loss in cell force production, in vivo muscle weakness, and distal arthrogryposis. 20457903

2010
dbSNP: rs137853305
rs137853305
TPM2
0.020 GeneticVariation BEFREE We describe two patients, a woman and her daughter, with muscle weakness and distal arthrogryposis (DA) type 2B, caused by a heterozygous missense mutation, R133W, in TPM2, the gene encoding beta-TM. 17339586

2007
dbSNP: rs121913618
rs121913618
MYH3
0.010 GeneticVariation BEFREE We measured the contractile properties of individual skeletal muscle cells and the activation and relaxation kinetics of isolated myofibrils from two adult individuals with an R672C substitution in embryonic myosin and distal arthrogryposis syndrome 2A (DA2A) or Freeman-Sheldon syndrome. 25740846

2015
dbSNP: rs387906657
rs387906657
MYBPC1
0.010 GeneticVariation BEFREE Two missense mutations in the NH2 terminus (W236R) and COOH terminus (Y856H) of sMyBP-C have been causally linked to the development of distal arthrogryposis-1 (DA-1), a severe skeletal muscle disorder. 23657818

2013
dbSNP: rs387906658
rs387906658
MYBPC1
0.010 GeneticVariation BEFREE Two missense mutations in the NH2 terminus (W236R) and COOH terminus (Y856H) of sMyBP-C have been causally linked to the development of distal arthrogryposis-1 (DA-1), a severe skeletal muscle disorder. 23657818

2013
dbSNP: rs763091291
rs763091291
MYH3
0.010 GeneticVariation BEFREE A missense mutation in MYH3 (a gene coding for the heavy chain of myosin), causing an F437I amino acid substitution, was identified that segregated with distal arthrogryposis in this family. 21531865

2011
dbSNP: rs772816537
rs772816537
TPM3
0.010 GeneticVariation BEFREE Hence, we recorded and analyzed the X-ray diffraction patterns of human membrane-permeabilized muscle cells expressing a particular beta-tropomyosin mutation (R133W) associated with a loss in cell force production, in vivo muscle weakness, and distal arthrogryposis. 20457903

2010