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: rs9913017
rs9913017
3 0.882 0.120 17 73014881 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs9904341
rs9904341
20 0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 0.020 1.000 2 2013 2014
dbSNP: rs9642880
rs9642880
9 0.776 0.240 8 127705823 intron variant G/A;T snv 0.760 1.000 9 2008 2015
dbSNP: rs9624880
rs9624880
3 0.882 0.120 22 25588025 intron variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs9619311
rs9619311
4 0.851 0.160 22 32800707 intron variant T/C snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs953038635
rs953038635
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.020 0.500 2 2004 2014
dbSNP: rs937475913
rs937475913
7 0.790 0.120 8 47936435 missense variant T/C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs9297976
rs9297976
PSCA ; JRK
7 0.790 0.160 8 142670817 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs9288518
rs9288518
9 0.776 0.240 2 216196997 intron variant A/G snv 0.35 0.010 1.000 1 2009 2009
dbSNP: rs9282861
rs9282861
31 0.658 0.440 16 28606193 missense variant C/T snv 0.040 1.000 4 2003 2017
dbSNP: rs921142
rs921142
3 0.882 0.120 8 41311757 upstream gene variant T/C snv 0.31 0.010 < 0.001 1 2013 2013
dbSNP: rs907611
rs907611
4 0.882 0.160 11 1852842 upstream gene variant G/A snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs9034
rs9034
5 0.827 0.200 7 106249610 3 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs887569
rs887569
5 0.882 0.120 7 148808210 intron variant C/T snv 0.73 0.010 1.000 1 2016 2016
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.070 1.000 7 2010 2015
dbSNP: rs874945
rs874945
14 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs8679
rs8679
7 0.790 0.200 1 226360853 3 prime UTR variant A/G snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.080 1.000 8 2009 2014
dbSNP: rs861531
rs861531
3 0.882 0.120 14 103706470 3 prime UTR variant C/A snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs861530
rs861530
13 0.732 0.320 14 103707786 3 prime UTR variant T/C snv 0.65 0.010 1.000 1 2016 2016
dbSNP: rs8444
rs8444
3 0.882 0.120 1 150966095 3 prime UTR variant G/A snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs833052
rs833052
5 0.827 0.160 6 43755598 intergenic variant A/C snv 0.88 0.040 1.000 4 2007 2019
dbSNP: rs8179090
rs8179090
12 0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs8175347
rs8175347
16 0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 0.010 1.000 1 2016 2016
dbSNP: rs8102137
rs8102137
3 0.882 0.120 19 29805946 regulatory region variant T/C snv 0.24 0.720 1.000 3 2010 2014