rs201076610, MME

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE Three endometrial stromal sarcomas with JAZF1-SUZ12 or JAZF1-PHF1 fusion harboured unprecedented mutations (p.D54G in two, and p.Q48* in one).All remaining tumours were wild-type. 28002623 2017
Endometrial Stromal Sarcoma
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
0.010 GeneticVariation BEFREE Three endometrial stromal sarcomas with JAZF1-SUZ12 or JAZF1-PHF1 fusion harboured unprecedented mutations (p.D54G in two, and p.Q48* in one).All remaining tumours were wild-type. 28002623 2017