Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909068
rs121909068
0.800 GeneticVariation UNIPROT Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. 15221788

2004

dbSNP: rs121909068
rs121909068
0.800 GeneticVariation UNIPROT Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. 10835638

2000

dbSNP: rs121909068
rs121909068
G 0.800 CausalMutation CLINVAR