Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894193
rs104894193
0.800 GeneticVariation UNIPROT Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. 11137991

2001

dbSNP: rs104894193
rs104894193
0.800 GeneticVariation UNIPROT The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). 11106354

2000

dbSNP: rs104894193
rs104894193
T 0.800 CausalMutation CLINVAR