Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519959
rs1057519959
SF3B2
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519959
rs1057519959
SF3B2
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519959
rs1057519959
SF3B2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519959
rs1057519959
SF3B2
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016