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: rs121913243
rs121913243
MET
7 0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05 0.700 0
dbSNP: rs121913246
rs121913246
MET
7 0.827 0.200 7 116783360 missense variant A/G snv 0.700 0
dbSNP: rs121913669
rs121913669
MET
2 0.925 0.120 7 116782027 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs121913670
rs121913670
MET
3 0.925 0.120 7 116783329 missense variant G/A snv 0.700 0
dbSNP: rs121913671
rs121913671
MET
4 0.882 0.160 7 116783353 missense variant G/A;C snv 0.700 0
dbSNP: rs121913673
rs121913673
MET
3 0.925 0.120 7 116782048 missense variant C/G;T snv 0.700 0
dbSNP: rs5030823
rs5030823
VHL
4 0.851 0.280 3 10149871 stop gained C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs786202724
rs786202724
MET
5 0.925 0.120 7 116777403 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs121913668
rs121913668
MET
4 0.882 0.120 7 116778827 missense variant T/C snv 0.700 1.000 1 1997 1997
dbSNP: rs1362888828
rs1362888828
3 0.925 0.120 21 31266532 synonymous variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs553863637
rs553863637
3 0.925 0.120 2 68382602 missense variant G/A;C snv 4.8E-05 0.010 1.000 1 2000 2000
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2001 2001
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2001 2001
dbSNP: rs5030824
rs5030824
VHL
9 0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs104893824
rs104893824
VHL
8 0.776 0.320 3 10142181 missense variant T/A;C snv 0.020 1.000 2 1999 2003
dbSNP: rs1416313401
rs1416313401
5 0.827 0.160 8 109578004 missense variant A/G snv 4.1E-06 0.010 1.000 1 2003 2003
dbSNP: rs5030809
rs5030809
VHL
10 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.010 1.000 1 2003 2003
dbSNP: rs141683432
rs141683432
4 0.882 0.120 19 38287929 missense variant C/T snv 1.6E-03 1.9E-03 0.010 1.000 1 2005 2005
dbSNP: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2005 2005
dbSNP: rs1064794272
rs1064794272
VHL
6 0.807 0.240 3 10146566 missense variant C/A snv 0.010 1.000 1 2006 2006
dbSNP: rs17576
rs17576
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2006 2006
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2006 2006
dbSNP: rs937475913
rs937475913
7 0.790 0.120 8 47936435 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1057520001
rs1057520001
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 < 0.001 1 2007 2007
dbSNP: rs2273535
rs2273535
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 < 0.001 1 2007 2007