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: rs1555461176
rs1555461176
1 1.000 0.120 16 23634893 stop gained -/T delins 0.700 0
dbSNP: rs587776416
rs587776416
5 0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05 0.700 0
dbSNP: rs80358451
rs80358451
2 0.925 0.160 13 32333140 missense variant T/G snv 5.6E-05 6.3E-05 0.700 0
dbSNP: rs10500715
rs10500715
2 0.925 0.120 11 9951515 intron variant T/G snv 0.39 0.700 1.000 1 2014 2014
dbSNP: rs1153280
rs1153280
2 1.000 0.120 21 29305751 intron variant G/A snv 0.52 0.700 1.000 1 2011 2011
dbSNP: rs1153287
rs1153287
1 1.000 0.120 21 29313290 intron variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1153294
rs1153294
1 1.000 0.120 21 29328775 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs117214
rs117214
1 1.000 0.120 21 29348513 intron variant C/T snv 0.45 0.700 1.000 1 2011 2011
dbSNP: rs12362504
rs12362504
2 0.925 0.120 11 9907995 intron variant T/C snv 0.37 0.700 1.000 1 2014 2014
dbSNP: rs12413624
rs12413624
5 0.851 0.120 10 118519432 intergenic variant T/A snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs12456874
rs12456874
2 0.925 0.120 18 13366863 intron variant A/G snv 0.20 0.700 1.000 1 2014 2014
dbSNP: rs1447826
rs1447826
1 1.000 0.120 3 74669607 intergenic variant T/A;C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs1455311
rs1455311
2 0.925 0.160 4 79043433 intron variant A/G snv 0.14 0.700 1.000 1 2011 2011
dbSNP: rs1547374
rs1547374
2 0.925 0.120 21 42358786 downstream gene variant A/G snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs1810636
rs1810636
2 0.925 0.160 20 2674279 regulatory region variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1975920
rs1975920
1 1.000 0.120 12 27583053 intron variant G/T snv 0.40 0.700 1.000 1 2011 2011
dbSNP: rs2027605
rs2027605
3 1.000 0.120 21 29354452 intron variant A/G snv 0.48 0.700 1.000 1 2011 2011
dbSNP: rs2035565
rs2035565
1 1.000 0.120 2 67392524 intron variant C/T snv 0.74 0.700 1.000 1 2011 2011
dbSNP: rs2172905
rs2172905
1 1.000 0.120 6 170019278 regulatory region variant C/T snv 0.30 0.700 1.000 1 2011 2011
dbSNP: rs2236479
rs2236479
2 0.925 0.160 21 45499218 intron variant G/A snv 0.40 0.700 1.000 1 2011 2011
dbSNP: rs2255280
rs2255280
C9 ; DAB2
2 0.925 0.120 5 39394887 intron variant C/A snv 0.98 0.700 1.000 1 2011 2011
dbSNP: rs2832290
rs2832290
1 1.000 0.120 21 29356542 intron variant A/G snv 0.48 0.700 1.000 1 2011 2011
dbSNP: rs2903018
rs2903018
1 1.000 0.120 19 29164379 intergenic variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs372883
rs372883
5 0.827 0.360 21 29345416 3 prime UTR variant T/C snv 0.53 0.700 1.000 1 2011 2011
dbSNP: rs397507851
rs397507851
3 0.925 0.120 13 32340761 frameshift variant AAATGTT/- delins 0.700 1.000 1 2004 2004