VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: Pheochromocytoma ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5030824
rs5030824 		0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.810 1.000 1 2002 2002
dbSNP: rs397516440
rs397516440 		0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.800 1.000 3 2013 2014
dbSNP: rs5030808
rs5030808 		0.882 0.200 3 10142124 missense variant G/A;C;T snv 4.5E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.800 1.000 3 2013 2014
dbSNP: rs104893826
rs104893826 		0.882 0.200 3 10142038 missense variant G/A;C snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.800 0
dbSNP: rs5030820
rs5030820 		0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.800 0
dbSNP: rs5030805
rs5030805 		0.790 0.280 3 10142086 missense variant G/A;T snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.710 < 0.001 1 2008 2008
dbSNP: rs5030809
rs5030809 		0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.710 1.000 1 2003 2003
dbSNP: rs104893827
rs104893827 		1.000 0.040 3 10142035 missense variant T/A;C snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 1.000 3 2013 2014
dbSNP: rs1060503555
rs1060503555 		1.000 0.040 3 10146613 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs1553619948
rs1553619948 		0.882 0.200 3 10146528 missense variant T/C snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs35460768
rs35460768 		0.925 0.160 3 10141921 missense variant C/T snv 3.0E-03 2.6E-03
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs397516441
rs397516441 		0.882 0.200 3 10149790 missense variant A/G snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs5030821
rs5030821 		0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs5030823
rs5030823 		0.851 0.280 3 10149871 stop gained C/A;G;T snv 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs5030833
rs5030833 		0.925 0.160 3 10146580 missense variant T/C;G snv 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs730882035
rs730882035 		0.807 0.200 3 10149805 missense variant G/A snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs864321640
rs864321640 		1.000 0.040 3 10149908 frameshift variant -/A delins
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs864321641
rs864321641 		1.000 0.040 3 10149802 missense variant A/T snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs864321642
rs864321642 		0.925 0.160 3 10149832 missense variant T/A;C snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs864321643
rs864321643 		0.925 0.160 3 10142140 missense variant A/C;G snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs869025616
rs869025616 		0.925 0.160 3 10142040 missense variant T/C;G snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs104893824
rs104893824 		0.776 0.320 3 10142181 missense variant T/A;C snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.020 1.000 2 1999 2003
dbSNP: rs267607170
rs267607170 		0.882 0.200 3 10149814 missense variant A/G snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs397516444
rs397516444 		0.882 0.200 3 10149808 missense variant G/A;T snv 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.010 1.000 1 2000 2000
dbSNP: rs5030827
rs5030827 		0.882 0.200 3 10142097 missense variant G/A;C;T snv 4.4E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.010 1.000 1 2006 2006