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: rs780094
rs780094
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.790 1.000 10 2011 2019
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.040 1.000 4 2015 2019
dbSNP: rs139051
rs139051
1 1.000 0.040 22 43928796 intron variant A/G snv 0.56 0.59 0.030 1.000 3 2012 2018
dbSNP: rs2143571
rs2143571
5 0.827 0.080 22 43995806 intron variant G/A snv 0.25 0.800 1.000 3 2012 2018
dbSNP: rs2896019
rs2896019
10 0.790 0.160 22 43937814 intron variant T/G snv 0.20 0.810 1.000 3 2013 2018
dbSNP: rs4374383
rs4374383
10 0.776 0.200 2 112013193 intron variant A/G snv 0.58 0.030 1.000 3 2016 2019
dbSNP: rs17321515
rs17321515
16 0.776 0.200 8 125474167 intron variant A/G snv 0.49 0.020 1.000 2 2019 2019
dbSNP: rs1800591
rs1800591
3 0.882 0.120 4 99574331 intron variant G/T snv 0.26 0.020 1.000 2 2014 2014
dbSNP: rs2073080
rs2073080
2 0.925 0.040 22 43998522 intron variant C/T snv 0.20 0.810 1.000 2 2012 2018
dbSNP: rs2073082
rs2073082
1 1.000 0.040 22 43964127 intron variant G/A snv 0.18 0.700 1.000 2 2012 2013
dbSNP: rs2276736
rs2276736
1 1.000 0.040 3 148708086 intron variant A/G;T snv 0.020 1.000 2 2009 2013
dbSNP: rs2645424
rs2645424
5 0.827 0.120 8 11826954 intron variant A/C;G snv 0.56 0.820 1.000 2 2010 2014
dbSNP: rs2954021
rs2954021
15 1.000 0.040 8 125469835 intron variant A/G snv 0.54 0.020 1.000 2 2014 2019
dbSNP: rs3772622
rs3772622
4 0.851 0.080 3 148717966 intron variant T/A;C snv 0.020 1.000 2 2013 2016
dbSNP: rs3772627
rs3772627
1 1.000 0.040 3 148712467 intron variant A/G snv 0.44 0.020 1.000 2 2009 2013
dbSNP: rs3810622
rs3810622
1 1.000 0.040 22 43942254 intron variant T/C;G snv 0.40 0.710 1.000 2 2013 2016
dbSNP: rs4240624
rs4240624
5 0.882 0.040 8 9326721 intron variant G/A snv 0.87 0.710 1.000 2 2011 2014
dbSNP: rs4823173
rs4823173
8 0.827 0.200 22 43932850 intron variant G/A snv 0.24 0.18 0.020 1.000 2 2015 2018
dbSNP: rs5764455
rs5764455
1 1.000 0.040 22 44002644 intron variant A/C;G snv 0.710 1.000 2 2013 2016
dbSNP: rs6006473
rs6006473
2 0.925 0.040 22 43997195 intron variant C/T snv 0.47 0.710 1.000 2 2013 2016
dbSNP: rs738491
rs738491
3 0.882 0.040 22 43958231 intron variant C/T snv 0.34 0.800 1.000 2 2013 2018
dbSNP: rs10272006
rs10272006
SP4
3 0.925 0.080 7 21480514 intron variant G/A snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs10865710
rs10865710
13 0.763 0.360 3 12311699 intron variant C/G snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs11166927
rs11166927
1 1.000 0.040 8 139784177 intron variant T/C snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs11235972
rs11235972
1 1.000 0.040 11 74006029 intron variant G/A snv 0.21 0.010 1.000 1 2013 2013