Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs672601360
rs672601360
TWNK
0.800 GeneticVariation UNIPROT Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. 25355836

2014
dbSNP: rs672601360
rs672601360
TWNK
G 0.800 CausalMutation CLINVAR