Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1267580705
rs1267580705
EPAS1
4 0.925 0.240 2 46360680 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1271401320
rs1271401320
IFNA1
3 1.000 0.120 9 21440749 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs775387828
rs775387828
NFE2
7 0.851 0.200 12 54293083 missense variant G/A snv 2.2E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs148935214
rs148935214
RET
3 0.882 0.240 10 43114546 missense variant C/T snv 3.2E-04 3.8E-04 0.010 1.000 1 2010 2010
dbSNP: rs77724903
rs77724903
RET
23 0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 0.010 1.000 1 2010 2010
dbSNP: rs1368606697
rs1368606697
SDHC
1 1.000 0.120 1 161356763 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1400537035
rs1400537035
SERPINE1
3 0.882 0.200 7 101131931 missense variant C/A;G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs1188254133
rs1188254133
VEGFA
4 0.851 0.240 6 43781990 missense variant T/G snv 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1553619431
rs1553619431
VHL
2 0.925 0.160 3 10142109 missense variant T/A;C snv 0.800 1.000 43 1993 2017
dbSNP: rs398123481
rs398123481
VHL
2 1.000 0.120 3 10142103 missense variant C/G;T snv 0.800 1.000 40 1993 2017
dbSNP: rs397516441
rs397516441
VHL
4 0.882 0.200 3 10149790 missense variant A/G snv 0.800 1.000 37 1993 2017
dbSNP: rs28940298
rs28940298
VHL
9 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.820 1.000 35 1993 2017
dbSNP: rs5030809
rs5030809
VHL
10 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.810 1.000 33 1994 2017
dbSNP: rs730882034
rs730882034
VHL
3 0.925 0.160 3 10142104 missense variant C/G;T snv 0.810 1.000 33 1994 2017
dbSNP: rs1553619440
rs1553619440
VHL
1 1.000 0.120 3 10142125 missense variant G/A;T snv 0.800 1.000 32 1993 2017
dbSNP: rs1553619948
rs1553619948
VHL
3 0.882 0.200 3 10146528 missense variant T/C snv 0.800 1.000 32 1993 2017
dbSNP: rs267607170
rs267607170
VHL
3 0.882 0.200 3 10149814 missense variant A/G snv 0.800 1.000 32 1993 2017
dbSNP: rs397516444
rs397516444
VHL
3 0.882 0.200 3 10149808 missense variant G/A;T snv 4.0E-06 0.800 1.000 32 1993 2017
dbSNP: rs869025631
rs869025631
VHL
2 1.000 0.120 3 10142179 missense variant G/A;T snv 0.800 1.000 32 1993 2017
dbSNP: rs104893824
rs104893824
VHL
8 0.776 0.320 3 10142181 missense variant T/A;C snv 0.810 1.000 31 1993 2017
dbSNP: rs869025636
rs869025636
VHL
2 0.925 0.160 3 10142187 missense variant G/A;C snv 0.800 1.000 31 1993 2017
dbSNP: rs104893830
rs104893830
VHL
3 0.925 0.160 3 10146561 missense variant G/C;T snv 0.800 1.000 29 1993 2017
dbSNP: rs1553620313
rs1553620313
VHL
1 1.000 0.120 3 10149807 missense variant T/C snv 0.800 1.000 29 1993 2017
dbSNP: rs121913346
rs121913346
VHL
3 0.925 0.240 3 10149796 missense variant T/A;C snv 0.800 1.000 28 1993 2017
dbSNP: rs5030820
rs5030820
VHL
6 0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 0.800 1.000 28 1994 2017