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: rs68081839
rs68081839
3 0.882 0.080 11 105762027 intron variant TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTT delins 0.010 1.000 1 2018 2018
dbSNP: rs201203751
rs201203751
3 0.925 0.040 5 39203496 intron variant TT/-;T;TTT delins 0.700 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2017
dbSNP: rs11904814
rs11904814
5 0.851 0.080 2 207562074 intron variant T/G snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs144733372
rs144733372
4 0.882 0.120 17 45486856 intron variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs1488864
rs1488864
4 0.851 0.080 11 6321099 intron variant T/G snv 0.80 0.010 1.000 1 2017 2017
dbSNP: rs1535255
rs1535255
8 0.807 0.120 6 88151489 intron variant T/G snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs4512342
rs4512342
5 0.827 0.120 8 32750356 intron variant T/G snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs75921243
rs75921243
2 0.925 0.040 8 9988356 intron variant T/G snv 1.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs806371
rs806371
4 0.882 0.040 6 88146644 intron variant T/G snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.020 1.000 2 2012 2019
dbSNP: rs10485715
rs10485715
2 0.925 0.040 20 7279278 intergenic variant T/C snv 5.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs10748842
rs10748842
8 0.807 0.120 10 81889983 intron variant T/C snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs10884216
rs10884216
2 0.925 0.040 10 105701367 intergenic variant T/C snv 0.17 0.700 1.000 1 2016 2016
dbSNP: rs111365677
rs111365677
3 0.925 0.040 1 99463578 upstream gene variant T/C snv 2.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs1137070
rs1137070
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs11989919
rs11989919
3 0.882 0.040 8 32645107 intron variant T/C snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs12720071
rs12720071
7 0.807 0.200 6 88141462 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2008 2008
dbSNP: rs1352618632
rs1352618632
2 0.925 0.040 13 33112802 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs142641502
rs142641502
3 0.925 0.040 11 33109861 intron variant T/C snv 8.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs16935279
rs16935279
4 0.851 0.040 8 68961217 intron variant T/C snv 1.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs17066873
rs17066873
4 0.851 0.040 13 76889874 non coding transcript exon variant T/C snv 5.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs17156280
rs17156280
2 0.925 0.040 7 82414674 intron variant T/C snv 3.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs189864513
rs189864513
3 0.925 0.040 4 52767390 intron variant T/C snv 1.9E-03 0.700 1.000 1 2016 2016
dbSNP: rs190783615
rs190783615
3 0.925 0.040 X 142772620 intergenic variant T/C snv 9.3E-03 0.700 1.000 1 2016 2016