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: rs121917755
rs121917755
1.000 0.040 1 17028724 missense variant G/A;C snv 8.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 1.000 10 2001 2014
dbSNP: rs74315370
rs74315370
0.882 0.080 1 17044825 stop gained G/A;C snv 1.6E-05
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 1.000 10 2001 2017
dbSNP: rs74315371
rs74315371
1.000 0.040 1 17028721 missense variant C/T snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 1.000 10 2001 2014
dbSNP: rs876659329
rs876659329
1.000 0.040 1 17044767 missense variant A/G;T snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 1.000 10 2001 2014
dbSNP: rs786202732
rs786202732
0.882 0.080 1 17024041 missense variant A/G snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 1.000 7 2001 2007
dbSNP: rs876658367
rs876658367
0.882 0.080 1 17024028 missense variant C/T snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 1.000 7 2001 2007
dbSNP: rs121908827
rs121908827
1.000 0.040 2 96254107 missense variant A/G snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 1.000 5 2010 2014
dbSNP: rs121908828
rs121908828
1.000 0.040 2 96254106 missense variant C/A;T snv 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 1.000 5 2010 2014
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: rs727504457
rs727504457
0.925 0.080 1 17033086 missense variant A/G snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 1.000 3 2013 2014
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.820 1.000 3 2005 2014
dbSNP: rs75996173
rs75996173
RET
0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.850 1.000 3 2002 2014
dbSNP: rs121908824
rs121908824
1.000 0.040 2 96254962 missense variant G/A;C;T snv 2.0E-05; 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 1.000 2 2010 2010
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: rs1553619948
rs1553619948
VHL
0.882 0.200 3 10146528 missense variant T/C snv
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: 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: rs772551056
rs772551056
0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 1.000 0 2003 2016