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: rs1131691003
rs1131691003
12 0.752 0.360 17 7676381 splice donor variant C/A;G snv 0.700 0
dbSNP: rs1131691042
rs1131691042
12 0.752 0.360 17 7675052 splice donor variant C/T snv 0.700 0
dbSNP: rs11540652
rs11540652
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs55832599
rs55832599
18 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
dbSNP: rs2212020
rs2212020
1 1.000 0.120 3 37475971 intron variant C/T snv 0.34 0.710 1.000 1 2009 2009
dbSNP: rs10163267
rs10163267
1 1.000 0.120 16 83940313 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1016343
rs1016343
8 0.807 0.240 8 127081052 non coding transcript exon variant C/T snv 0.20 0.700 1.000 1 2010 2010
dbSNP: rs10411210
rs10411210
13 0.742 0.160 19 33041394 intron variant C/T snv 0.22 0.700 1.000 1 2010 2010
dbSNP: rs10505477
rs10505477
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.700 1.000 1 2010 2010
dbSNP: rs1051730
rs1051730
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.700 1.000 1 2010 2010
dbSNP: rs10795668
rs10795668
17 0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24 0.700 1.000 1 2010 2010
dbSNP: rs10821936
rs10821936
11 0.742 0.200 10 61963818 intron variant C/T snv 0.69 0.700 1.000 1 2010 2010
dbSNP: rs10896449
rs10896449
7 0.827 0.200 11 69227200 intergenic variant A/G snv 0.53 0.700 1.000 1 2010 2010
dbSNP: rs10934853
rs10934853
3 0.882 0.160 3 128319530 intron variant C/A snv 0.43 0.700 1.000 1 2010 2010
dbSNP: rs10993994
rs10993994
15 0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 0.700 1.000 1 2010 2010
dbSNP: rs11083846
rs11083846
3 0.882 0.200 19 46704397 splice region variant G/A snv 0.17 0.16 0.700 1.000 1 2010 2010
dbSNP: rs11155133
rs11155133
2 0.925 0.200 6 140848688 intron variant A/G snv 8.5E-02 0.700 1.000 1 2010 2010
dbSNP: rs11228565
rs11228565
3 0.882 0.160 11 69211113 regulatory region variant G/A snv 0.16 0.700 1.000 1 2010 2010
dbSNP: rs11249433
rs11249433
9 0.827 0.160 1 121538815 intron variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs1154865
rs1154865
3 0.882 0.160 12 73596057 intergenic variant C/G snv 0.22 0.700 1.000 1 2010 2010
dbSNP: rs11668878
rs11668878
2 0.925 0.200 19 46765116 intron variant G/T snv 5.1E-02 0.700 1.000 1 2010 2010
dbSNP: rs11978267
rs11978267
9 0.763 0.240 7 50398606 intron variant A/G snv 0.25 0.700 1.000 1 2010 2010
dbSNP: rs1219648
rs1219648
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.700 1.000 1 2010 2010