Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519949
rs1057519949
RHEB
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519949
rs1057519949
RHEB
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519949
rs1057519949
RHEB
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
Papillary renal cell carcinoma, sporadic 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519949
rs1057519949
RHEB
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519950
rs1057519950
RHEB
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519950
rs1057519950
RHEB
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
Papillary renal cell carcinoma, sporadic 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519950
rs1057519950
RHEB
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519950
rs1057519950
RHEB
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1554438588
rs1554438588
RHEB
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554438588
rs1554438588
RHEB
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		A 0.700 GeneticVariation CLINVAR