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: rs1044122
rs1044122
2 0.925 0.040 10 126036209 synonymous variant A/G snv 0.27 0.26 0.030 0.667 3 2014 2017
dbSNP: rs1078301
rs1078301
1 1.000 0.040 9 114146866 intergenic variant A/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs10947262
rs10947262
3 0.925 0.040 6 32405535 non coding transcript exon variant C/T snv 0.12 0.810 1.000 2 2010 2010
dbSNP: rs12901499
rs12901499
3 0.882 0.040 15 67078107 intron variant G/A snv 0.45 0.020 0.500 2 2018 2018
dbSNP: rs1871054
rs1871054
3 0.925 0.040 10 126093840 intron variant C/A;T snv 0.020 0.500 2 2017 2017
dbSNP: rs10190094
rs10190094
1 1.000 0.040 2 235709582 intron variant G/A snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs10492367
rs10492367
3 0.882 0.040 12 27862037 regulatory region variant G/T snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs1065080
rs1065080
1 1.000 0.040 15 67164997 missense variant A/G;T snv 0.87 0.010 1.000 1 2019 2019
dbSNP: rs10758594
rs10758594
2 0.925 0.040 9 4295583 intron variant A/G snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs10948172
rs10948172
3 0.882 0.040 6 44809954 intron variant A/G snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs11105466
rs11105466
2 0.925 0.040 12 89933142 intron variant G/A snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs112129861
rs112129861
1 1.000 0.040 15 59047450 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs11456119
rs11456119
2 0.925 0.040 7 96089185 intron variant A/-;AA;AAA delins 0.700 1.000 1 2019 2019
dbSNP: rs11564299
rs11564299
2 0.925 0.040 18 28180064 upstream gene variant A/G snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs11732213
rs11732213
2 0.925 0.040 4 1702517 intron variant T/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs11997261
rs11997261
2 0.925 0.040 8 8666851 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12193102
rs12193102
2 0.925 0.040 6 45177665 intron variant C/G snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs12470967
rs12470967
2 0.925 0.040 2 191807255 intron variant A/G snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs1278279
rs1278279
2 0.925 0.040 10 126064909 missense variant G/A;C snv 0.27 0.010 < 0.001 1 2017 2017
dbSNP: rs12982744
rs12982744
4 0.925 0.040 19 2177194 intron variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs13301537
rs13301537
2 0.925 0.040 9 92466765 intron variant A/G snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs1419894030
rs1419894030
1 1.000 0.040 6 151944332 missense variant C/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs145965284
rs145965284
1 1.000 0.040 3 65812468 intron variant T/A snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs1529505
rs1529505
1 1.000 0.040 5 76819138 5 prime UTR variant C/G;T snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs16868943
rs16868943
3 1.000 0.040 6 33179950 intron variant G/A snv 2.9E-02 0.010 < 0.001 1 2018 2018