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: 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: 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: 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: 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: rs28940297
rs28940297
VHL
4 0.882 0.240 3 10149811 missense variant T/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs774380450
rs774380450
VHL
1 1.000 0.120 3 10149951 missense variant C/T snv 3.6E-05 2.8E-05 0.010 1.000 1 2001 2001
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: 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: rs780178275
rs780178275
VHL
7 0.851 0.200 3 10146586 missense variant C/T snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs35460768
rs35460768
VHL
2 0.925 0.160 3 10141921 missense variant C/T snv 3.0E-03 2.6E-03 0.020 0.500 2 2001 2006
dbSNP: rs367545984
rs367545984
VHL
1 1.000 0.120 3 10149879 stop gained G/A;T snv 1.6E-05 0.700 1.000 24 1993 2017
dbSNP: rs373068386
rs373068386
VHL
1 1.000 0.120 3 10142001 stop gained G/A;T snv 6.3E-05; 1.0E-05 0.700 1.000 24 1993 2017
dbSNP: rs771727849
rs771727849
VHL
1 1.000 0.120 3 10146608 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 24 1993 2017
dbSNP: rs1553619956
rs1553619956
VHL
1 1.000 0.120 3 10146555 missense variant C/T snv 0.700 1.000 17 1993 2006
dbSNP: rs1559426203
rs1559426203
VHL
2 0.925 0.160 3 10142178 missense variant A/G;T snv 0.700 1.000 17 1994 2017
dbSNP: rs869025650
rs869025650
VHL
3 0.882 0.160 3 10146603 stop gained G/A;C;T snv 4.0E-06 0.700 1.000 15 1998 2014
dbSNP: rs869025652
rs869025652
VHL
2 0.925 0.160 3 10146608 frameshift variant GC/- del 0.700 1.000 15 1994 2014
dbSNP: rs869025655
rs869025655
VHL
3 0.925 0.160 3 10146625 missense variant T/C;G snv 0.700 1.000 12 1999 2018
dbSNP: rs5030814
rs5030814
VHL
2 0.925 0.160 3 10146638 splice donor variant T/C;G snv 0.700 1.000 10 1996 2014
dbSNP: rs869025622
rs869025622
VHL
3 0.925 0.160 3 10142111 missense variant G/C;T snv 0.700 1.000 10 1995 2016
dbSNP: rs104893826
rs104893826
VHL
4 0.882 0.200 3 10142038 missense variant G/A;C snv 0.700 1.000 8 1998 2014
dbSNP: rs5030817
rs5030817
VHL
1 1.000 0.120 3 10149786 splice acceptor variant G/A;C;T snv 0.700 1.000 8 1994 2007
dbSNP: rs864622646
rs864622646
VHL
1 1.000 0.120 3 10146518 missense variant C/A;G;T snv 0.700 1.000 8 1995 2015