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: rs2300206
rs2300206
17 0.708 0.280 20 34002002 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2974935
rs2974935
17 0.708 0.280 1 155212052 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs481519
rs481519
17 0.708 0.280 3 27285723 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs56404467
rs56404467
FRY
17 0.708 0.280 13 32265853 intron variant G/A snv 1.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs73110464
rs73110464
17 0.708 0.280 12 52918828 intron variant C/T snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs7725218
rs7725218
17 0.708 0.280 5 1282299 intron variant G/A snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs11651755
rs11651755
9 0.763 0.160 17 37739849 intron variant T/C snv 0.52 0.700 1.000 1 2017 2017
dbSNP: rs7705526
rs7705526
15 0.776 0.240 5 1285859 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs7405776
rs7405776
6 0.807 0.120 17 37733029 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs8037137
rs8037137
8 0.807 0.160 15 90963407 upstream gene variant T/C snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs192876988
rs192876988
4 0.851 0.120 4 79376097 intergenic variant T/C snv 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs6755777
rs6755777
3 0.882 0.120 2 176178498 non coding transcript exon variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs711830
rs711830
3 0.882 0.120 2 176172583 3 prime UTR variant A/C;G;T snv 0.76 0.700 1.000 1 2017 2017
dbSNP: rs7953249
rs7953249
4 0.882 0.160 12 120965921 splice region variant G/A snv 0.59 0.700 1.000 1 2017 2017
dbSNP: rs10962692
rs10962692
3 0.925 0.120 9 16915876 upstream gene variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs1400482
rs1400482
2 0.925 0.120 8 128529685 intron variant G/A snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs144962376
rs144962376
2 0.925 0.120 10 21589903 intron variant CCCCTT/-;CCCCTTCCCCTT delins 0.700 1.000 1 2017 2017
dbSNP: rs1879586
rs1879586
2 0.925 0.120 17 45489971 intron variant C/G snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs2165109
rs2165109
2 0.925 0.120 2 111061081 intron variant A/C snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs58722170
rs58722170
2 0.925 0.120 1 37630749 intron variant G/C snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs6005807
rs6005807
2 0.925 0.120 22 28538325 intron variant T/C snv 0.89 0.700 1.000 1 2017 2017
dbSNP: rs62274041
rs62274041
3 0.925 0.120 3 156717851 upstream gene variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs7207826
rs7207826
2 0.925 0.120 17 48423311 intron variant T/C snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs7902587
rs7902587
2 0.925 0.080 10 103934543 intergenic variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs8098244
rs8098244
2 0.925 0.120 18 23825589 intron variant A/C;G snv 0.700 1.000 1 2017 2017