Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519949
rs1057519949
RHEB
0.851 0.120 7 151490964 missense variant A/T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519949
rs1057519949
RHEB
0.851 0.120 7 151490964 missense variant A/T snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519949
rs1057519949
RHEB
0.851 0.120 7 151490964 missense variant A/T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519949
rs1057519949
RHEB
0.851 0.120 7 151490964 missense variant A/T snv
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
Papillary renal cell carcinoma, sporadic 		0.700 1.000 1 2016 2016
dbSNP: rs1057519950
rs1057519950
RHEB
0.827 0.200 7 151490963 missense variant T/A;C snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519950
rs1057519950
RHEB
0.827 0.200 7 151490963 missense variant T/A;C snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519950
rs1057519950
RHEB
0.827 0.200 7 151490963 missense variant T/A;C snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519950
rs1057519950
RHEB
0.827 0.200 7 151490963 missense variant T/A;C snv
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
Papillary renal cell carcinoma, sporadic 		0.700 1.000 1 2016 2016
dbSNP: rs1554438588
rs1554438588
RHEB
0.925 0.120 7 151490948 missense variant T/A snv
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.700 0
dbSNP: rs1554438588
rs1554438588
RHEB
0.925 0.120 7 151490948 missense variant T/A snv
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		0.700 0