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: rs104893826
rs104893826
VHL
0.882 0.200 3 10142038 missense variant G/A;C snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 0
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: 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: rs121908818
rs121908818
CIAO1 ; TMEM127
0.925 0.080 2 96265224 stop gained C/G;T snv 7.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 1.000 2 2010 2010
dbSNP: rs121908819
rs121908819
CIAO1 ; TMEM127
1.000 0.040 2 96265174 missense variant C/T snv 2.0E-04 7.2E-04
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 1.000 2 2010 2010
dbSNP: rs121908820
rs121908820
CIAO1 ; TMEM127
1.000 0.040 2 96265165 missense variant C/G snv 3.7E-05 3.5E-05
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 1.000 2 2010 2010
dbSNP: rs121908823
rs121908823
TMEM127
1.000 0.040 2 96254974 missense variant C/T snv 6.7E-04 2.6E-03
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 1.000 2 2010 2010
dbSNP: rs121908824
rs121908824
TMEM127
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: rs121908827
rs121908827
TMEM127
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
TMEM127
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: rs121917755
rs121917755
SDHB
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: rs138996609
rs138996609
SDHB
0.882 0.080 1 17022685 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 1.000 10 2001 2015
dbSNP: rs1553619948
rs1553619948
VHL
0.882 0.200 3 10146528 missense variant T/C snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 0
dbSNP: rs201743423
rs201743423
MAX
1.000 0.040 14 65102315 missense variant C/A snv 8.9E-05 7.0E-05
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 1.000 6 2011 2015
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: rs36119840
rs36119840
GDNF ; GDNF-AS1
0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.710 1.000 1 1997 1997
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: 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: 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: 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