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: rs71031566
rs71031566
1 1.000 0.080 10 94287212 non coding transcript exon variant -/ATTT ins 0.29 0.010 1.000 1 2018 2018
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 1.000 7 2003 2017
dbSNP: rs115797771
rs115797771
6 0.807 0.080 13 73064505 intron variant A/C snv 5.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs144848
rs144848
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2003 2003
dbSNP: rs2620381
rs2620381
1 1.000 0.080 15 42199650 mature miRNA variant A/C snv 4.4E-02 4.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs712
rs712
24 0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 0.010 1.000 1 2020 2020
dbSNP: rs7763881
rs7763881
11 0.776 0.160 6 8653014 non coding transcript exon variant A/C snv 0.44 0.010 1.000 1 2015 2015
dbSNP: rs1565684
rs1565684
1 1.000 0.080 8 18389154 upstream gene variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1997623
rs1997623
9 0.807 0.160 7 116525306 missense variant A/C;G snv 0.86 0.010 1.000 1 2014 2014
dbSNP: rs213210
rs213210
11 0.742 0.240 6 33208047 upstream gene variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs2227981
rs2227981
12 0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63 0.010 1.000 1 2016 2016
dbSNP: rs6505162
rs6505162
25 0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 0.050 0.800 5 2013 2019
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs2273535
rs2273535
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2004 2004
dbSNP: rs4359426
rs4359426
3 0.925 0.120 16 57358821 missense variant A/C;T snv 0.92 0.94 0.010 < 0.001 1 2017 2017
dbSNP: rs762624
rs762624
4 0.851 0.280 6 36677811 non coding transcript exon variant A/C;T snv 0.37; 2.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs2274223
rs2274223
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.800 1.000 18 2010 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 13 2003 2019
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 0.333 3 2007 2013
dbSNP: rs2395655
rs2395655
5 0.882 0.120 6 36677919 5 prime UTR variant A/G snv 0.43 0.49 0.030 1.000 3 2014 2019
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.020 1.000 2 2013 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2006 2008
dbSNP: rs1834306
rs1834306
9 0.776 0.200 11 122152479 intron variant A/G snv 0.49 0.020 1.000 2 2014 2015
dbSNP: rs3731239
rs3731239
10 0.763 0.240 9 21974219 intron variant A/G snv 0.26 0.020 1.000 2 2013 2014
dbSNP: rs10061133
rs10061133
4 0.851 0.160 5 55170716 mature miRNA variant A/G snv 0.11 8.6E-02 0.010 1.000 1 2015 2015