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: rs748289455
rs748289455
1 1.000 0.080 10 73647532 frameshift variant -/A ins 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs140226130
rs140226130
8 0.790 0.200 18 33336845 intron variant -/CTTTTTGCT delins 7.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs767910122
rs767910122
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1202891821
rs1202891821
1 1.000 0.080 7 150947849 frameshift variant -/TTGG ins 0.010 1.000 1 2014 2014
dbSNP: rs2860482
rs2860482
1 1.000 0.080 12 56712154 downstream gene variant A/C snv 0.80 0.700 1.000 2 2018 2018
dbSNP: rs35620480
rs35620480
1 1.000 0.080 8 11642399 upstream gene variant A/C snv 0.11 0.700 1.000 2 2018 2018
dbSNP: rs1273246817
rs1273246817
3 0.882 0.080 1 237784169 missense variant A/C snv 0.010 1.000 1 2013 2013
dbSNP: rs13191450
rs13191450
1 1.000 0.080 6 122070990 intergenic variant A/C snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs1333048
rs1333048
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs1555896778
rs1555896778
2 0.925 0.080 20 62473504 missense variant A/C snv 0.010 1.000 1 2013 2013
dbSNP: rs2980853
rs2980853
16 0.851 0.120 8 125466108 upstream gene variant A/C snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs3745297
rs3745297
HRC
10 0.790 0.120 19 49154952 missense variant A/C snv 0.41 0.38 0.010 1.000 1 2019 2019
dbSNP: rs4951261
rs4951261
1 1.000 0.080 1 205748695 intron variant A/C snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs8088085
rs8088085
1 1.000 0.080 18 51182178 intron variant A/C snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs147301839
rs147301839
1 1.000 0.080 15 57632516 missense variant A/C;G snv 3.5E-03; 1.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs210632
rs210632
1 1.000 0.080 6 117559179 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs220733
rs220733
3 1.000 0.080 6 159897771 intron variant A/C;G snv 0.99 0.010 < 0.001 1 2011 2011
dbSNP: rs520525
rs520525
1 1.000 0.080 1 170669192 non coding transcript exon variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs6994744
rs6994744
1 1.000 0.080 8 140730769 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs1152591
rs1152591
1 1.000 0.080 14 64214130 intron variant A/C;G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs1046934
rs1046934
4 1.000 0.080 1 184054395 missense variant A/C;G;T snv 0.34; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1997572
rs1997572
1 1.000 0.080 7 116558774 intron variant A/C;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12992412
rs12992412
1 1.000 0.080 2 148035096 intron variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2145274
rs2145274
1 1.000 0.080 20 6591367 regulatory region variant A/C;T snv 8.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2013 2013