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: rs1502593
rs1502593
SCD
3 1.000 0.040 10 100349445 intron variant G/A snv 0.34 0.010 1.000 1 2012 2012
dbSNP: rs508384
rs508384
SCD
2 10 100365004 downstream gene variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs374019283
rs374019283
5 0.882 0.200 3 10039759 synonymous variant T/C snv 4.0E-05 2.2E-04 0.010 1.000 1 2002 2002
dbSNP: rs865862446
rs865862446
5 0.882 0.200 3 10049416 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs10132552
rs10132552
3 1.000 0.040 14 100834675 non coding transcript exon variant T/C snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs10165970
rs10165970
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs17024869
rs17024869
18 0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs11160608
rs11160608
2 14 100846756 non coding transcript exon variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs7158663
rs7158663
9 0.827 0.240 14 100853087 non coding transcript exon variant A/G snv 0.42 0.010 1.000 1 2019 2019
dbSNP: rs758448528
rs758448528
2 7 100860024 missense variant G/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs895520
rs895520
23 0.689 0.320 2 100961475 intron variant G/A snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs7581886
rs7581886
18 0.708 0.320 2 100964784 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017
dbSNP: rs4919510
rs4919510
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.040 0.750 4 2017 2018
dbSNP: rs10895068
rs10895068
14 0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs2288349
rs2288349
5 0.882 0.120 19 10146569 intron variant G/A snv 0.36 0.35 0.010 1.000 1 2015 2015
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: rs2228611
rs2228611
19 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs3730477
rs3730477
4 0.925 0.080 10 101580299 missense variant G/A snv 0.17 0.16 0.010 1.000 1 2016 2016
dbSNP: rs2228612
rs2228612
12 0.763 0.160 19 10162696 missense variant T/A;C;G snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs16999593
rs16999593
14 0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs762471803
rs762471803
6 0.925 0.040 11 102114201 missense variant T/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1284806277
rs1284806277
MOK
13 0.827 0.200 14 102251978 missense variant A/G snv 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs6214
rs6214
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs6220
rs6220
4 0.925 0.080 12 102400737 3 prime UTR variant G/A snv 0.67 0.020 1.000 2 2013 2018