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: rs771563543
rs771563543
5 0.851 0.040 10 31510841 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2013 2016
dbSNP: rs1005230
rs1005230
5 0.827 0.040 6 43768759 upstream gene variant T/C snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2018 2018
dbSNP: rs3024994
rs3024994
8 0.776 0.120 6 43775770 non coding transcript exon variant C/T snv 3.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs833061
rs833061
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs6971
rs6971
11 0.742 0.200 22 43162920 missense variant A/G snv 0.76 0.75 0.010 1.000 1 2017 2017
dbSNP: rs2234248
rs2234248
5 0.827 0.040 6 41163980 upstream gene variant A/G snv 2.2E-03 0.010 1.000 1 2015 2015
dbSNP: rs745542298
rs745542298
6 0.807 0.080 1 3732781 missense variant G/A;T snv 8.6E-06; 4.3E-06 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs769809364
rs769809364
7 0.807 0.080 1 3732940 missense variant G/A snv 8.5E-06 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.040 1.000 4 2009 2018
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2013 2013
dbSNP: rs121912660
rs121912660
26 0.683 0.240 17 7673781 missense variant C/A;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs121913343
rs121913343
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs371409680
rs371409680
10 0.790 0.120 17 7673772 missense variant C/G;T snv 4.0E-05 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs55819519
rs55819519
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2013 2013
dbSNP: rs760043106
rs760043106
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs764803020
rs764803020
5 0.851 0.040 17 7673750 frameshift variant -/TTTCCGCCGG delins 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs781490101
rs781490101
5 0.851 0.040 17 7673748 missense variant T/C snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2013 2013
dbSNP: rs1982073
rs1982073
32 0.649 0.640 19 41353016 missense variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2736098
rs2736098
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2011 2011
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2011 2011