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: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.100 0.944 18 2007 2019
dbSNP: rs12255372
rs12255372
28 0.667 0.480 10 113049143 intron variant G/A;T snv 0.070 0.857 7 2007 2019
dbSNP: rs7901695
rs7901695
6 0.851 0.160 10 112994329 intron variant T/C snv 0.34 0.030 1.000 3 2011 2017
dbSNP: rs4506565
rs4506565
22 0.790 0.280 10 112996282 intron variant A/G;T snv 0.020 1.000 2 2014 2018
dbSNP: rs1427214163
rs1427214163
2 1.000 0.080 10 113151879 missense variant C/T snv 7.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs290487
rs290487
10 0.776 0.280 10 113149972 intron variant C/T snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs34872471
rs34872471
3 1.000 0.080 10 112994312 intron variant T/C snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs7094463
rs7094463
1 10 112952224 intron variant A/G snv 0.57 0.010 1.000 1 2016 2016