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: rs2222202
rs2222202
5 0.827 0.160 1 206772036 intron variant G/A snv 0.39 0.010 1.000 1 2019 2019
dbSNP: rs3024490
rs3024490
11 0.742 0.520 1 206771966 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs140511594
rs140511594
13 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs360719
rs360719
7 0.790 0.480 11 112165426 non coding transcript exon variant A/G snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs387906735
rs387906735
1 1.000 0.080 MT 608 non coding transcript exon variant A/G snv 0.700 0