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: 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: 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: 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: 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: rs77709286
rs77709286
RET
0.752 0.160 10 43114502 missense variant C/G snv 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 0
dbSNP: rs77724903
rs77724903
RET
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.830 0.667 0 2010 2015
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: rs74315368
rs74315368
SDHB
0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 1.000 10 2001 2015
dbSNP: rs74315370
rs74315370
SDHB
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
SDHB
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
SDHB
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
SDHB
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
SDHB
0.882 0.080 1 17024028 missense variant C/T snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 1.000 7 2001 2007
dbSNP: rs727504457
rs727504457
SDHB
0.925 0.080 1 17033086 missense variant A/G snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 1.000 3 2013 2014
dbSNP: rs772551056
rs772551056
SDHB
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
dbSNP: rs80338844
rs80338844
SDHD
0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 1.000 3 2000 2015
dbSNP: rs80338845
rs80338845
SDHD
0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 1.000 3 2010 2015
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: 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