Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1565930588
rs1565930588
HSPB8
T 0.700 GeneticVariation CLINVAR HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. 28501893

2017
dbSNP: rs1565930588
rs1565930588
HSPB8
T 0.700 GeneticVariation CLINVAR Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. 26976520

2016
dbSNP: rs1057519439
rs1057519439
DNAH7
G 0.700 CausalMutation CLINVAR

dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555462347
rs1555462347
USP7
G 0.700 GeneticVariation CLINVAR

dbSNP: rs374052333
rs374052333
UBA5 ; NPHP3-ACAD11
T 0.700 GeneticVariation CLINVAR

dbSNP: rs587782995
rs587782995
PURA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853164
rs878853164
KMT5B
A 0.700 GeneticVariation CLINVAR