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: rs3988211
rs3988211
1 1.000 0.040 17 75850024 intron variant A/G snv 0.95 0.700 1.000 1 2018 2018
dbSNP: rs5522
rs5522
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.010 1.000 1 2011 2011
dbSNP: rs2478813
rs2478813
4 0.882 0.080 1 208073865 intron variant A/G snv 0.85 0.010 1.000 1 2007 2007
dbSNP: rs10112596
rs10112596
3 0.925 0.120 8 11722293 intron variant A/G snv 0.83 0.010 1.000 1 2018 2018
dbSNP: rs80533
rs80533
2 1.000 0.040 22 40689965 intergenic variant A/G snv 0.81 0.700 1.000 1 2018 2018
dbSNP: rs4684833
rs4684833
2 1.000 0.040 3 11990245 intergenic variant C/T snv 0.79 0.700 1.000 1 2018 2018
dbSNP: rs1390938
rs1390938
7 0.807 0.200 8 20179202 missense variant A/G snv 0.71 0.78 0.010 1.000 1 2016 2016
dbSNP: rs4526367
rs4526367
1 1.000 0.040 8 10355952 intron variant G/A snv 0.77 0.700 1.000 1 2018 2018
dbSNP: rs1843809
rs1843809
6 0.851 0.080 12 71954918 intron variant G/T snv 0.77 0.010 1.000 1 2015 2015
dbSNP: rs9671386
rs9671386
1 1.000 0.040 14 74684344 intron variant G/A snv 0.73 0.700 1.000 1 2018 2018
dbSNP: rs4245150
rs4245150
1 1.000 0.040 11 113493925 intergenic variant G/T snv 0.72 0.700 1.000 1 2018 2018
dbSNP: rs3026401
rs3026401
2 1.000 0.040 11 31785976 3 prime UTR variant C/T snv 0.71 0.700 1.000 1 2018 2018
dbSNP: rs34644694
rs34644694
1 1.000 0.040 1 117274369 intron variant C/A snv 0.70 0.700 1.000 1 2018 2018
dbSNP: rs2695121
rs2695121
16 0.716 0.280 19 50377484 5 prime UTR variant T/C snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs3096140
rs3096140
5 0.882 0.080 5 37832731 intron variant G/A snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs9296158
rs9296158
16 0.763 0.080 6 35599305 intron variant A/G snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs1163085
rs1163085
INA
1 1.000 0.040 10 103279484 intron variant G/A snv 0.64 0.700 1.000 1 2018 2018
dbSNP: rs353547
rs353547
3 0.925 0.080 3 52234850 intron variant T/C snv 0.64 0.700 1.000 1 2018 2018
dbSNP: rs2910931
rs2910931
3 0.925 0.080 5 32394809 intron variant T/A snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs3124377
rs3124377
1 1.000 0.040 13 55411477 intergenic variant C/T snv 0.63 0.700 1.000 1 2018 2018
dbSNP: rs3761422
rs3761422
4 1.000 0.040 22 24430704 intron variant T/C snv 0.62 0.010 < 0.001 1 2010 2010
dbSNP: rs7567451
rs7567451
1 1.000 0.040 2 156196868 intron variant G/T snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs10005233
rs10005233
1 1.000 0.040 4 89822180 3 prime UTR variant C/T snv 0.58 0.59 0.700 1.000 1 2018 2018
dbSNP: rs6807666
rs6807666
1 1.000 0.040 3 85545278 intron variant A/C snv 0.59 0.700 1.000 1 2018 2018