Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201933838
rs201933838
MKS1
T 0.700 GeneticVariation CLINVAR Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. 17437276

2007
dbSNP: rs201933838
rs201933838
MKS1
T 0.700 CausalMutation CLINVAR