Source: ALL
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: rs1556867
rs1556867
1 1.000 0.040 1 164244449 intergenic variant C/T snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs2808510
rs2808510
1 1.000 0.040 1 200366947 non coding transcript exon variant C/T snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs4373767
rs4373767
4 0.882 0.040 1 219586340 regulatory region variant C/T snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs479445
rs479445
1 1.000 0.040 1 60875960 intron variant T/A snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs748448196
rs748448196
1 1.000 0.040 1 90939337 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1057518799
rs1057518799
7 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
dbSNP: rs1553200431
rs1553200431
8 0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 0.700 0
dbSNP: rs587777893
rs587777893
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
dbSNP: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
dbSNP: rs876657731
rs876657731
6 0.807 0.200 1 216073096 splice donor variant C/T snv 1.2E-05 0.700 0
dbSNP: rs1064795104
rs1064795104
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs13382811
rs13382811
4 0.882 0.040 2 144466053 intron variant C/T snv 0.21 0.020 0.500 2 2017 2019
dbSNP: rs1550094
rs1550094
1 1.000 0.040 2 232520686 missense variant G/A snv 0.72 0.64 0.710 1.000 2 2016 2016
dbSNP: rs17400325
rs17400325
2 1.000 0.040 2 177701185 missense variant T/C snv 3.2E-02 2.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs17428076
rs17428076
1 1.000 0.040 2 171987022 intron variant C/G snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs2342406
rs2342406
1 1.000 0.040 2 44925609 intron variant T/C snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs297589
rs297589
1 1.000 0.040 2 156502238 intron variant T/A snv 0.65 0.700 1.000 1 2016 2016
dbSNP: rs61049169
rs61049169
1 1.000 0.040 2 146131140 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs533297350
rs533297350
5 1.000 0.040 2 227010441 missense variant C/T snv 7.2E-05 3.5E-05 0.700 0
dbSNP: rs543860009
rs543860009
33 0.742 0.320 2 178589003 stop gained G/A;T snv 0.700 0
dbSNP: rs569681869
rs569681869
6 0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05 0.700 0
dbSNP: rs878854378
rs878854378
33 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
dbSNP: rs10936538
rs10936538
1 1.000 0.040 3 167439281 downstream gene variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs669676
rs669676
2 1.000 0.040 3 99730008 intron variant A/G snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs826220
rs826220
1 1.000 0.040 3 24227186 intron variant C/T snv 0.70 0.700 1.000 1 2016 2016