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: rs727479
rs727479
10 0.790 0.240 15 51242350 intron variant C/A;T snv 0.700 1.000 2 2012 2018
dbSNP: rs10454142
rs10454142
3 2 48419260 intergenic variant T/C snv 0.22 0.700 1.000 1 2012 2012
dbSNP: rs10514317
rs10514317
3 5 89813933 intergenic variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs12150660
rs12150660
5 1.000 0.040 17 7618597 intron variant G/T snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs12739262
rs12739262
3 1 202422615 splice region variant C/T snv 1.5E-04 7.0E-05 0.700 1.000 1 2012 2012
dbSNP: rs12751297
rs12751297
3 1 242792261 intergenic variant G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs12978500
rs12978500
3 19 406934 3 prime UTR variant C/A snv 0.67 0.700 1.000 1 2012 2012
dbSNP: rs1573036
rs1573036
3 X 110576840 intergenic variant C/T snv 0.42 0.700 1.000 1 2012 2012
dbSNP: rs1625895
rs1625895
13 0.752 0.200 17 7674797 non coding transcript exon variant T/A;C;G snv 9.1E-06; 0.86; 4.5E-06 0.700 1.000 1 2012 2012
dbSNP: rs1641537
rs1641537
3 17 7642403 upstream gene variant T/C snv 0.75 0.700 1.000 1 2012 2012
dbSNP: rs17496332
rs17496332
3 1 107003753 intergenic variant A/G snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs200932358
rs200932358
2 17 49368390 intron variant AAATAAATAAATAAATAAAT/-;AAAT;AAATAAAT;AAATAAATAAAT;AAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAATAAATAAAT delins 0.13 0.700 1.000 1 2012 2012
dbSNP: rs2411984
rs2411984
3 17 49368389 intron variant G/A snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs293428
rs293428
3 4 68726064 intergenic variant A/G snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs35198051
rs35198051
3 11 71134158 intron variant G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs36019094
rs36019094
3 5 40237272 upstream gene variant C/A snv 0.700 1.000 1 2012 2012
dbSNP: rs371768722
rs371768722
2 17 49368390 intron variant AAATAAATAAATAAATAAAT/-;AAAT;AAATAAAT;AAATAAATAAAT;AAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAATAAATAAAT delins 0.700 1.000 1 2012 2012
dbSNP: rs3779195
rs3779195
3 7 98364050 intron variant T/A snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs3849221
rs3849221
3 9 135136831 regulatory region variant A/C snv 0.59 0.700 1.000 1 2012 2012
dbSNP: rs4149056
rs4149056
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.700 1.000 1 2012 2012
dbSNP: rs440837
rs440837
3 8 80549739 intergenic variant A/G snv 0.39 0.700 1.000 1 2012 2012
dbSNP: rs597800
rs597800
2 2 31251376 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs6016142
rs6016142
3 1.000 0.120 20 39672165 intergenic variant C/T snv 7.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs6258
rs6258
5 1.000 0.040 17 7631360 missense variant C/A;T snv 5.6E-05; 4.5E-03 0.700 1.000 1 2012 2012
dbSNP: rs727428
rs727428
11 0.882 0.200 17 7634474 downstream gene variant T/C snv 0.55 0.700 1.000 1 2012 2012