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: rs11674595
rs11674595
13 0.763 0.200 2 101994530 intron variant T/C snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs4851527
rs4851527
7 0.790 0.160 2 102005914 intron variant A/G snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs10490571
rs10490571
5 0.827 0.320 2 102100877 intron variant C/T snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs956730
rs956730
2 0.925 0.120 2 102141656 intron variant G/A snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs3917225
rs3917225
6 0.807 0.160 2 102152842 intron variant A/G snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs3755276
rs3755276
3 0.925 0.120 2 102361999 intron variant C/T snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs1974675
rs1974675
2 1.000 0.040 2 102369915 intron variant G/A snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs12294076
rs12294076
1 1.000 0.040 11 103256336 intron variant T/C snv 6.8E-02 0.800 1.000 1 2014 2014
dbSNP: rs1190662183
rs1190662183
1 1.000 0.040 19 10338932 synonymous variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs34536443
rs34536443
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs9420907
rs9420907
7 0.790 0.320 10 103916707 intron variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs10507172
rs10507172
1 1.000 0.040 12 103949490 intron variant G/A snv 7.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs10507173
rs10507173
1 1.000 0.040 12 103950058 intron variant A/G snv 6.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs12212067
rs12212067
20 0.716 0.320 6 108659993 intron variant T/G snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs3800229
rs3800229
4 1.000 0.040 6 108675760 intron variant G/T snv 0.54 0.010 1.000 1 2019 2019
dbSNP: rs4946935
rs4946935
2 1.000 0.040 6 108679539 intron variant A/G snv 0.54 0.010 1.000 1 2019 2019
dbSNP: rs2273346
rs2273346
1 1.000 0.040 1 11030840 missense variant A/G snv 5.0E-02 5.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs6695096
rs6695096
1 1.000 0.040 1 11034982 intron variant C/A;T snv 0.020 1.000 2 2014 2015
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2014 2014
dbSNP: rs549908
rs549908
10 0.752 0.440 11 112150193 synonymous variant T/A;G snv 4.2E-06; 0.29 0.010 1.000 1 2011 2011
dbSNP: rs5744247
rs5744247
1 1.000 0.040 11 112155433 intron variant G/C snv 8.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs187238
rs187238
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.020 1.000 2 2019 2020
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.050 1.000 5 2011 2020
dbSNP: rs772717932
rs772717932
2 1.000 0.040 2 112830530 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2019 2019