Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746763506
rs746763506
FKTN
T 0.700 CausalMutation CLINVAR A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. 14627679

2003
dbSNP: rs746763506
rs746763506
FKTN
T 0.700 CausalMutation CLINVAR Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin. 11165248

2001
dbSNP: rs119463992
rs119463992
FKTN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554754182
rs1554754182
FKTN
T 0.700 GeneticVariation CLINVAR