rs672601361, TWNK

N. diseases: 1
Disease: PERRAULT SYNDROME 5 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PERRAULT SYNDROME 5
CUI: C4015307
Disease: PERRAULT SYNDROME 5
0.800 GeneticVariation UNIPROT Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. 25355836 2014
PERRAULT SYNDROME 5
CUI: C4015307
Disease: PERRAULT SYNDROME 5
0.800 CausalMutation CLINVAR