Source: UNIPROT

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: rs104893827
rs104893827
VHL
1.000 0.040 3 10142035 missense variant T/A;C snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 1.000 3 2013 2014
dbSNP: rs397516440
rs397516440
VHL
0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 1.000 3 2013 2014
dbSNP: rs5030808
rs5030808
VHL
0.882 0.200 3 10142124 missense variant G/A;C;T snv 4.5E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 1.000 3 2013 2014
dbSNP: rs104893826
rs104893826
VHL
0.882 0.200 3 10142038 missense variant G/A;C snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 0
dbSNP: rs1060503555
rs1060503555
VHL
1.000 0.040 3 10146613 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 0
dbSNP: rs1553619948
rs1553619948
VHL
0.882 0.200 3 10146528 missense variant T/C snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 0
dbSNP: rs35460768
rs35460768
VHL
0.925 0.160 3 10141921 missense variant C/T snv 3.0E-03 2.6E-03
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 0
dbSNP: rs397516441
rs397516441
VHL
0.882 0.200 3 10149790 missense variant A/G snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 0
dbSNP: rs5030805
rs5030805
VHL
0.790 0.280 3 10142086 missense variant G/A;T snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.710 < 0.001 0 2008 2008
dbSNP: rs5030809
rs5030809
VHL
0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.710 1.000 0 2003 2003
dbSNP: rs5030820
rs5030820
VHL
0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 0
dbSNP: rs5030821
rs5030821
VHL
0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 0
dbSNP: rs5030824
rs5030824
VHL
0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.810 1.000 0 2002 2002
dbSNP: rs5030833
rs5030833
VHL
0.925 0.160 3 10146580 missense variant T/C;G snv 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 0
dbSNP: rs730882035
rs730882035
VHL
0.807 0.200 3 10149805 missense variant G/A snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 0
dbSNP: rs869025616
rs869025616
VHL
0.925 0.160 3 10142040 missense variant T/C;G snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 0