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: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2005 2008
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2005 2008
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2005 2008
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2007 2007
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 < 0.001 1 2010 2010
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2008 2008
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2007 2007
dbSNP: rs759412116
rs759412116
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2007 2007
dbSNP: rs11571833
rs11571833
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2015 2015
dbSNP: rs3218536
rs3218536
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs895819
rs895819
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.010 1.000 1 2010 2010
dbSNP: rs1045485
rs1045485
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs1136201
rs1136201
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2005 2005
dbSNP: rs1057519975
rs1057519975
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1042028
rs1042028
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 0.010 < 0.001 1 2010 2010
dbSNP: rs1058808
rs1058808
27 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 0.010 1.000 1 2005 2005
dbSNP: rs9282861
rs9282861
31 0.658 0.440 16 28606193 missense variant C/T snv 0.010 < 0.001 1 2010 2010
dbSNP: rs61764370
rs61764370
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs12255372
rs12255372
28 0.667 0.480 10 113049143 intron variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs77724903
rs77724903
RET
23 0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 0.700 0
dbSNP: rs34301344
rs34301344
22 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 0.040 1.000 4 2006 2006
dbSNP: rs1801132
rs1801132
22 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 0.010 1.000 1 2006 2006
dbSNP: rs11200014
rs11200014
19 0.695 0.280 10 121575416 intron variant G/A;T snv 0.34 0.010 1.000 1 2012 2012
dbSNP: rs2981582
rs2981582
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.010 1.000 1 2012 2012