Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs59914820
rs59914820
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs59914820
rs59914820
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome. 17711925

2007
dbSNP: rs59914820
rs59914820
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. 12015247

2002