Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607620
rs267607620
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		G 0.700 CausalMutation CLINVAR p.Pro4Arg mutation in LMNA gene: a new atypical progeria phenotype without metabolism abnormalities. 24861648

2014
dbSNP: rs267607620
rs267607620
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		G 0.700 CausalMutation CLINVAR Atypical progeroid syndrome due to heterozygous missense LMNA mutations. 19875478

2009