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: rs13334632
rs13334632
1 1.000 0.080 16 87457213 intron variant T/C snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs2241617
rs2241617
1 1.000 0.080 16 87407442 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2012 2012
dbSNP: rs9217
rs9217
3 1.000 0.080 17 7459769 3 prime UTR variant T/A;C snv 0.010 1.000 1 2006 2006
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs2853676
rs2853676
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs378042
rs378042
1 1.000 0.080 5 111524099 intron variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs1042173
rs1042173
14 0.763 0.320 17 30197993 3 prime UTR variant A/C snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs866500135
rs866500135
1 1.000 0.080 17 30212752 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs27072
rs27072
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs12519
rs12519
1 1.000 0.080 9 89013167 3 prime UTR variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs1331188
rs1331188
1 1.000 0.080 9 89110472 intron variant G/T snv 0.23 0.010 1.000 1 2007 2007
dbSNP: rs1411836
rs1411836
1 1.000 0.080 9 89160966 intron variant C/G;T snv 0.12 0.010 1.000 1 2007 2007
dbSNP: rs1547696
rs1547696
1 1.000 0.080 9 89079205 intron variant T/C snv 0.60 0.010 1.000 1 2007 2007
dbSNP: rs1556384
rs1556384
1 1.000 0.080 9 89149212 intron variant T/C snv 0.93 0.010 1.000 1 2007 2007
dbSNP: rs2297313
rs2297313
1 1.000 0.080 9 89054447 intron variant A/G snv 0.41 0.010 1.000 1 2007 2007
dbSNP: rs3750399
rs3750399
1 1.000 0.080 9 89042048 synonymous variant T/A;C snv 0.71 0.010 1.000 1 2007 2007
dbSNP: rs3818668
rs3818668
1 1.000 0.080 9 89065616 intron variant C/G snv 0.76 0.64 0.010 1.000 1 2007 2007
dbSNP: rs4534195
rs4534195
1 1.000 0.080 9 89153733 intron variant C/T snv 0.66 0.010 1.000 1 2007 2007
dbSNP: rs4877042
rs4877042
1 1.000 0.080 9 89045243 intron variant T/C snv 0.29 0.010 1.000 1 2007 2007
dbSNP: rs2878298
rs2878298
1 1.000 0.080 3 49368647 intron variant T/C snv 0.43 0.010 1.000 1 2007 2007
dbSNP: rs880395
rs880395
2 1.000 0.080 15 78552014 3 prime UTR variant A/G;T snv 0.020 1.000 2 2017 2018
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 < 0.001 1 2014 2014
dbSNP: rs4375
rs4375
3 0.925 0.080 22 38143034 non coding transcript exon variant T/C snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs10798059
rs10798059
2 0.925 0.080 1 186830478 intron variant G/A snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.030 0.667 3 2011 2017