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: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.870 0.778 9 2009 2017
dbSNP: rs2056626
rs2056626
5 0.882 0.080 1 167451188 intron variant T/G snv 0.30 0.830 1.000 5 2010 2019
dbSNP: rs2736340
rs2736340
22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.820 1.000 4 2010 2019
dbSNP: rs10488631
rs10488631
13 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.810 1.000 5 2010 2019
dbSNP: rs13239597
rs13239597
3 0.882 0.080 7 129055929 non coding transcript exon variant C/A snv 9.0E-02 0.810 1.000 2 2013 2020
dbSNP: rs3821236
rs3821236
3 0.882 0.160 2 191038032 intron variant G/A snv 0.25 0.800 1.000 3 2010 2019
dbSNP: rs1857066
rs1857066
1 1.000 0.040 1 173363490 non coding transcript exon variant A/C snv 0.79 0.800 1.000 2 2013 2019
dbSNP: rs3790566
rs3790566
1 1.000 0.040 1 67348757 intron variant T/C snv 0.61 0.800 1.000 2 2013 2019
dbSNP: rs443198
rs443198
4 0.851 0.200 6 32222629 synonymous variant A/G snv 0.38 0.39 0.800 1.000 2 2010 2011
dbSNP: rs6457617
rs6457617
11 0.763 0.480 6 32696074 intergenic variant C/A;T snv 0.800 1.000 2 2010 2011
dbSNP: rs9275390
rs9275390
3 0.882 0.120 6 32701379 downstream gene variant T/C snv 0.30 0.800 1.000 2 2010 2011
dbSNP: rs10498070
rs10498070
2 0.925 0.080 2 219833404 intergenic variant A/C snv 0.39 0.800 1.000 1 2013 2013
dbSNP: rs10499197
rs10499197
2 0.925 0.080 6 137811379 intergenic variant T/G snv 2.4E-02 0.800 1.000 1 2013 2013
dbSNP: rs11047102
rs11047102
2 0.925 0.160 12 23793212 intron variant C/T snv 7.9E-02 0.800 1.000 1 2011 2011
dbSNP: rs11171747
rs11171747
1 1.000 0.040 12 56124624 3 prime UTR variant T/A;G snv 0.800 1.000 1 2011 2011
dbSNP: rs1133906
rs1133906
2 0.925 0.080 7 93135669 synonymous variant C/T snv 0.22 0.28 0.800 1.000 1 2013 2013
dbSNP: rs11642873
rs11642873
4 0.851 0.280 16 85958099 intergenic variant A/C snv 0.15 0.800 1.000 1 2011 2011
dbSNP: rs11860650
rs11860650
3 0.882 0.120 16 31315385 intron variant C/T snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs12540874
rs12540874
3 0.882 0.280 7 50597225 intron variant A/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs12711490
rs12711490
4 0.925 0.080 16 85939422 intron variant T/C snv 0.18 0.800 1.000 1 2013 2013
dbSNP: rs1535001
rs1535001
2 0.925 0.080 6 34959503 intron variant A/G snv 0.47 0.800 1.000 1 2013 2013
dbSNP: rs1635852
rs1635852
5 0.882 0.160 7 28149792 intron variant T/C snv 0.42 0.800 1.000 1 2013 2013
dbSNP: rs2176082
rs2176082
PXK
2 0.925 0.080 3 58345459 intron variant G/A snv 0.36 0.800 1.000 1 2013 2013
dbSNP: rs2233287
rs2233287
2 0.925 0.160 5 151060536 intron variant G/A snv 0.11 0.800 1.000 1 2011 2011
dbSNP: rs2275247
rs2275247
2 0.925 0.080 1 35442850 intron variant T/C snv 0.26 0.800 1.000 1 2013 2013