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: rs672601361
rs672601361
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

dbSNP: rs672601361
rs672601361
TWNK
G 0.800 CausalMutation CLINVAR

dbSNP: rs369588002
rs369588002
TWNK
0.700 GeneticVariation UNIPROT Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. 25355836

2014
dbSNP: rs556445621
rs556445621
TWNK ; MRPL43
0.700 GeneticVariation UNIPROT Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. 25355836

2014
dbSNP: rs754081544
rs754081544
TWNK ; MRPL43
G 0.700 GeneticVariation CLINVAR

dbSNP: rs759603316
rs759603316
TWNK ; MRPL43
A 0.700 CausalMutation CLINVAR