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: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.100 0.980 102 2005 2019
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.921 38 2003 2019
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.100 0.968 31 2006 2019
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.100 0.967 30 1999 2019
dbSNP: rs16969968
rs16969968
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.100 0.963 27 2008 2018
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.100 0.962 26 2003 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.826 23 2001 2019
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.100 0.818 22 2001 2015
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.100 0.636 22 2004 2019
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.850 20 2000 2018
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.100 0.900 20 1998 2017
dbSNP: rs1051730
rs1051730
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.100 0.947 19 2008 2018
dbSNP: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.100 0.944 18 2009 2018
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.100 1.000 18 2010 2015
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.100 0.813 16 2004 2019
dbSNP: rs8034191
rs8034191
24 0.695 0.440 15 78513681 intron variant T/C snv 0.27 0.100 0.813 16 2008 2017
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.100 0.667 15 1999 2018
dbSNP: rs401681
rs401681
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.100 1.000 15 2009 2018
dbSNP: rs1799793
rs1799793
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 1.000 14 2001 2014
dbSNP: rs402710
rs402710
18 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 0.100 1.000 13 2009 2018
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.100 0.909 11 2010 2019
dbSNP: rs25489
rs25489
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.100 0.900 10 2001 2019
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.100 1.000 10 2014 2018
dbSNP: rs759412116
rs759412116
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.100 1.000 10 2003 2015
dbSNP: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.090 1.000 9 2005 2016