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: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 0.750 4 2008 2012
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.040 1.000 4 2008 2015
dbSNP: rs10761659
rs10761659
3 0.925 0.040 10 62685804 intron variant A/G snv 0.43 0.800 1.000 3 2012 2017
dbSNP: rs12942547
rs12942547
7 0.807 0.200 17 42375526 intron variant A/G;T snv 0.800 1.000 3 2012 2017
dbSNP: rs12946510
rs12946510
5 0.851 0.160 17 39756124 downstream gene variant C/T snv 0.37 0.800 1.000 3 2012 2017
dbSNP: rs1333407770
rs1333407770
3 0.925 0.040 10 77811115 frameshift variant G/-;GG delins 0.030 1.000 3 2007 2016
dbSNP: rs1363907
rs1363907
2 1.000 0.040 5 96917099 intron variant G/A snv 0.38 0.800 1.000 3 2012 2017
dbSNP: rs1456896
rs1456896
5 0.882 0.200 7 50264865 upstream gene variant C/T snv 0.67 0.800 1.000 3 2012 2017
dbSNP: rs17119
rs17119
4 0.882 0.120 6 14719265 intron variant G/A snv 0.74 0.800 1.000 3 2012 2017
dbSNP: rs17293632
rs17293632
12 0.763 0.240 15 67150258 intron variant C/T snv 0.17 0.800 1.000 3 2012 2017
dbSNP: rs17694108
rs17694108
3 0.925 0.040 19 33240645 regulatory region variant G/A snv 0.22 0.800 1.000 3 2012 2017
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.030 0.667 3 2014 2017
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.030 1.000 3 2014 2016
dbSNP: rs1819333
rs1819333
2 1.000 0.040 6 166960059 upstream gene variant T/G snv 0.57 0.800 1.000 3 2012 2017
dbSNP: rs1847472
rs1847472
7 0.807 0.200 6 90263440 intron variant C/A snv 0.25 0.800 1.000 3 2012 2017
dbSNP: rs1893217
rs1893217
14 0.742 0.440 18 12809341 intron variant A/G snv 0.12 0.810 1.000 3 2012 2016
dbSNP: rs2076756
rs2076756
5 0.882 0.040 16 50722970 intron variant A/G snv 0.17 0.820 1.000 3 2006 2017
dbSNP: rs2382817
rs2382817
3 0.925 0.040 2 218286495 5 prime UTR variant A/C snv 0.61 0.810 1.000 3 2012 2017
dbSNP: rs259964
rs259964
6 0.827 0.120 20 59249254 intron variant A/G;T snv 0.800 1.000 3 2012 2017
dbSNP: rs2836878
rs2836878
7 0.851 0.200 21 39093608 intergenic variant G/A snv 0.23 0.800 1.000 3 2008 2017
dbSNP: rs3024505
rs3024505
10 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 0.810 1.000 3 2012 2017
dbSNP: rs4845604
rs4845604
10 0.776 0.200 1 151829204 intron variant G/A;C;T snv 0.800 1.000 3 2012 2017
dbSNP: rs6856616
rs6856616
2 1.000 0.040 4 38323415 intergenic variant T/C snv 0.15 0.710 1.000 3 2014 2016
dbSNP: rs6871626
rs6871626
5 0.851 0.160 5 159399784 intron variant C/A;G snv 0.29 0.820 0.667 3 2012 2017
dbSNP: rs6920220
rs6920220
14 0.742 0.440 6 137685367 intron variant G/A snv 0.16 0.800 1.000 3 2012 2017