Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1565930588
rs1565930588
HSPB8
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		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
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		T 0.700 GeneticVariation CLINVAR HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. 28501893

2017
dbSNP: rs1565930588
rs1565930588
HSPB8
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		T 0.700 GeneticVariation CLINVAR Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. 26976520

2016