Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751713049
rs751713049
SRSF2 ; MFSD11 ; MIR636
0.020 GeneticVariation BEFREE In this study, we characterized MDS-associated SRSF2 mutants (P95H, P95L, and P95R). 31040863

2019
dbSNP: rs751713049
rs751713049
SRSF2 ; MFSD11 ; MIR636
0.020 GeneticVariation BEFREE To test this hypothesis, we engineered mice to express a mutated allele of serine/arginine-rich splicing factor 2 (Srsf2(P95H))-which commonly occurs in individuals with MDS and AML-in an inducible, hemizygous manner in hematopoietic cells. 27135740

2016