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: rs12097901
rs12097901
4 0.851 0.120 1 231421509 missense variant C/G snv 0.10 0.15 0.010 1.000 1 2014 2014
dbSNP: rs137853036
rs137853036
2 0.925 0.040 2 46380281 missense variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs200351681
rs200351681
1 1.000 0.040 2 96253927 missense variant G/A;T snv 8.0E-06; 2.8E-05 0.010 1.000 1 2020 2020
dbSNP: rs28940298
rs28940298
VHL
9 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.030 1.000 3 2005 2014
dbSNP: rs28940301
rs28940301
VHL
2 0.925 0.040 3 10149894 missense variant C/G snv 0.020 1.000 2 2013 2014
dbSNP: rs104893831
rs104893831
VHL
4 0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05 0.010 1.000 1 2014 2014
dbSNP: rs200885420
rs200885420
VHL
1 1.000 0.040 3 10142082 missense variant C/G;T snv 2.2E-05 0.010 1.000 1 2005 2005
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 2005 2005
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: rs869025650
rs869025650
VHL
3 0.882 0.160 3 10146603 stop gained G/A;C;T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs201051019
rs201051019
EPO
1 1.000 0.040 7 100722981 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.750 1.000 5 2006 2012
dbSNP: rs771912975
rs771912975
1 1.000 0.040 9 5055750 stop gained C/A;G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs33927093
rs33927093
HBB
1 1.000 0.040 11 5225620 missense variant G/A;T snv 0.010 1.000 1 1995 1995
dbSNP: rs35594230
rs35594230
HBB
1 1.000 0.040 11 5225626 missense variant G/A snv 0.010 1.000 1 1995 1995
dbSNP: rs754190776
rs754190776
2 0.925 0.080 11 5253350 missense variant G/A snv 8.0E-06 0.010 1.000 1 1989 1989
dbSNP: rs1565295267
rs1565295267
6 0.827 0.360 11 61774051 missense variant C/A snv 0.700 0
dbSNP: rs775387828
rs775387828
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: rs1232880706
rs1232880706
36 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
dbSNP: rs142094773
rs142094773
1 1.000 0.040 19 11378049 missense variant G/A snv 7.7E-03 5.3E-03 0.010 1.000 1 1996 1996
dbSNP: rs62638745
rs62638745
3 0.882 0.080 19 11378051 missense variant T/C snv 6.3E-03 6.2E-03 0.010 1.000 1 1996 1996
dbSNP: rs775206089
rs775206089
2 1.000 0.040 21 34880656 missense variant C/T snv 1.6E-05 0.010 1.000 1 2014 2014