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: rs6918679
rs6918679
1 1.000 0.040 6 74822861 intergenic variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.050 0.600 5 2011 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.050 0.800 5 2011 2019
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.020 1.000 2 2013 2015
dbSNP: rs4606
rs4606
16 0.752 0.120 1 192812042 3 prime UTR variant C/G;T snv 0.020 1.000 2 2009 2018
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2012 2019
dbSNP: rs7997012
rs7997012
11 0.807 0.080 13 46837850 intron variant A/G snv 0.69 0.020 1.000 2 2013 2013
dbSNP: rs1043307
rs1043307
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs11568817
rs11568817
8 0.790 0.120 6 77463665 5 prime UTR variant A/C snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs12454712
rs12454712
9 0.925 0.120 18 63178651 intron variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs14259
rs14259
19 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 0.010 1.000 1 2014 2014
dbSNP: rs16147
rs16147
18 0.695 0.400 7 24283791 upstream gene variant T/C snv 0.48 0.010 1.000 1 2010 2010
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 < 0.001 1 2013 2013
dbSNP: rs2463107
rs2463107
2 1.000 0.040 12 79699537 intron variant A/C snv 0.36 0.010 1.000 1 2010 2010
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2008 2008
dbSNP: rs2514259
rs2514259
AIP
8 0.807 0.280 11 67479201 upstream gene variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs324981
rs324981
18 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 0.010 1.000 1 2018 2018
dbSNP: rs3825172
rs3825172
14 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4245146
rs4245146
3 1.000 0.040 11 113447251 intron variant T/C snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs4792888
rs4792888
2 0.925 0.040 17 45800588 non coding transcript exon variant A/G snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2001 2001
dbSNP: rs74421874
rs74421874
14 0.776 0.360 12 121902546 non coding transcript exon variant G/A snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs765798193
rs765798193
18 0.732 0.320 12 121915884 frameshift variant G/-;GG delins 0.010 1.000 1 2014 2014
dbSNP: rs78602344
rs78602344
1 1.000 0.040 6 169226486 intron variant T/C snv 6.4E-02 0.010 1.000 1 2017 2017