Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143282828
rs143282828
Entrez Id: 51720
Gene Symbol: UIMC1
UIMC1
CUI: C0346153
Disease:
Breast Cancer, Familial
0.010 GeneticVariation BEFREE Three novel p.Ala342Thr, p.Met353Thr and p.Tyr575Asp rare missense variants and a novel haplotype composed of two variants in the CpG island (c.-24149G > T and c.-24001A > G) and a variant in the 5'UTR (c.-8A > G) and a variant in the 3'UTR (c.*27A > C) were detected in 26 of 571 (4.6%) individuals with familial breast cancer, compared to 14 of 725 (1.9%) controls (P = 0.01; OR = 2.4, 95% CI = 1.2-5.1). 18306035 2009