rs2075291, APOA5;ZPR1

N. diseases: 15
Disease: Nuchal bleb, familial ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nuchal bleb, familial
CUI: C0948242
Disease: Nuchal bleb, familial
0.010 GeneticVariation BEFREE The 553G>T (rs2075291) nonsynonymous variant was also associated with FCH (0.15 vs. 0.04, P=0.001) and, along with -3A>G (or -1131T>C) and 1891T>C, contributed to haplotypes predicting FCH. 19732897 2010