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: rs35705950
rs35705950
14 0.763 0.240 11 1219991 splice region variant G/A;T snv 0.900 0.971 34 2011 2019
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.840 1.000 4 2008 2019
dbSNP: rs5743890
rs5743890
4 0.925 0.040 11 1304599 intron variant T/C snv 9.7E-02 0.830 1.000 3 2013 2019
dbSNP: rs121917737
rs121917737
5 0.827 0.080 10 79557264 missense variant C/A snv 0.800 1.000 1 2009 2009
dbSNP: rs121917738
rs121917738
5 0.827 0.080 10 79557363 missense variant A/G snv 0.800 1.000 1 2009 2009
dbSNP: rs17690703
rs17690703
4 0.882 0.160 17 45847931 intron variant C/T snv 0.18 0.800 1.000 1 2013 2013
dbSNP: rs5743894
rs5743894
1 1.000 0.040 11 1303542 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs2076295
rs2076295
DSP
5 0.882 0.080 6 7562999 intron variant T/G snv 0.46 0.730 1.000 3 2016 2019
dbSNP: rs62025270
rs62025270
1 1.000 0.040 15 85756967 upstream gene variant G/A snv 0.17 0.710 1.000 1 2017 2017
dbSNP: rs111521887
rs111521887
1 1.000 0.040 11 1291476 intron variant C/G snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs146221660
rs146221660
2 0.925 0.040 20 63693248 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs201540674
rs201540674
4 0.851 0.160 20 63695619 missense variant G/A snv 1.6E-04 7.7E-05 0.700 1.000 1 2015 2015
dbSNP: rs28673968
rs28673968
1 1.000 0.040 4 89655739 intron variant T/C snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs398123017
rs398123017
4 0.851 0.160 20 63693211 stop gained C/A;G;T snv 4.0E-06; 3.2E-05 0.700 1.000 1 2015 2015
dbSNP: rs73606754
rs73606754
1 1.000 0.040 19 54420809 splice region variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs748223349
rs748223349
1 1.000 0.040 20 63688001 missense variant G/A;C snv 1.6E-05 0.700 1.000 1 2015 2015
dbSNP: rs776744306
rs776744306
3 0.882 0.160 20 63690442 splice donor variant G/A;C snv 4.5E-06 0.700 1.000 1 2015 2015
dbSNP: rs863225053
rs863225053
2 0.925 0.040 20 63690162 inframe deletion ATGTCATCC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs863225129
rs863225129
2 0.925 0.160 20 63687936 splice acceptor variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs863225130
rs863225130
1 1.000 0.040 20 63688161 missense variant T/G snv 0.700 1.000 1 2015 2015
dbSNP: rs869312855
rs869312855
1 1.000 0.040 20 63678184 splice donor variant -/T delins 0.700 1.000 1 2015 2015
dbSNP: rs1060502990
rs1060502990
2 0.925 0.040 5 1294549 frameshift variant -/G delins 0.700 0
dbSNP: rs113993959
rs113993959
25 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
dbSNP: rs121918666
rs121918666
3 0.882 0.160 5 1266524 missense variant C/T snv 8.2E-06 7.0E-06 0.700 0
dbSNP: rs1554038257
rs1554038257
2 0.925 0.040 5 1255333 frameshift variant GA/- delins 0.700 0