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: rs4919510
rs4919510
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.010 1.000 1 2015 2015
dbSNP: rs116671518
rs116671518
1 4 107189709 intron variant T/C snv 1.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs6797827
rs6797827
1 3 109735523 intron variant C/T snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs80274284
rs80274284
1 1 116037356 missense variant G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs5861895
rs5861895
1 4 129344228 regulatory region variant TT/-;T;TTT delins 0.700 1.000 1 2017 2017
dbSNP: rs1048369
rs1048369
4 0.882 0.160 X 133303309 missense variant G/A snv 0.33 0.38 0.010 1.000 1 2019 2019
dbSNP: rs62309385
rs62309385
1 4 136134743 intron variant G/C snv 9.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs6105452
rs6105452
1 20 15683126 intron variant C/T snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs200655768
rs200655768
1 2 178711222 synonymous variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2012 2012
dbSNP: rs314879
rs314879
1 13 22735243 intergenic variant C/T snv 0.78 0.700 1.000 1 2017 2017
dbSNP: rs12759054
rs12759054
3 1.000 0.040 1 233984064 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs1062630
rs1062630
1 6 31170330 synonymous variant G/A snv 0.18 0.22 0.700 1.000 1 2017 2017
dbSNP: rs3130070
rs3130070
1 6 31624031 intron variant A/G snv 0.17 0.700 1.000 1 2013 2013
dbSNP: rs3130623
rs3130623
1 6 31629923 intron variant C/T snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs3130626
rs3130626
2 1.000 0.120 6 31630712 synonymous variant A/G snv 0.15 0.17 0.700 1.000 1 2013 2013
dbSNP: rs2736157
rs2736157
2 1.000 0.120 6 31633043 intron variant A/G;T snv 0.15 0.17 0.700 1.000 1 2013 2013
dbSNP: rs3115663
rs3115663
7 0.827 0.360 6 31634066 non coding transcript exon variant T/C snv 0.17 0.700 1.000 1 2013 2013
dbSNP: rs11229
rs11229
6 0.851 0.280 6 31635993 synonymous variant A/G snv 0.14 0.17 0.700 1.000 1 2013 2013
dbSNP: rs10885
rs10885
1 6 31636814 missense variant C/T snv 0.14 0.17 0.700 1.000 1 2013 2013
dbSNP: rs3130628
rs3130628
2 1.000 0.120 6 31641495 non coding transcript exon variant T/C snv 0.15 0.18 0.700 1.000 1 2013 2013
dbSNP: rs3130048
rs3130048
3 1.000 0.120 6 31645962 intron variant T/C snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs3117583
rs3117583
3 0.925 0.200 6 31651799 5 prime UTR variant A/G snv 0.14 0.17 0.700 1.000 1 2013 2013
dbSNP: rs3130618
rs3130618
7 0.827 0.360 6 31664357 missense variant C/A;T snv 0.15; 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs9267532
rs9267532
2 1.000 0.120 6 31672202 missense variant C/T snv 7.4E-02 7.9E-02 0.700 1.000 1 2013 2013