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: rs6220
rs6220
4 0.925 0.080 12 102400737 3 prime UTR variant G/A snv 0.67 0.020 1.000 2 2013 2018
dbSNP: rs12423791
rs12423791
5 0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs1520220
rs1520220
9 0.807 0.280 12 102402744 intron variant G/C;T snv 0.76 0.010 1.000 1 2018 2018
dbSNP: rs2162679
rs2162679
6 0.851 0.240 12 102477481 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2195239
rs2195239
7 0.851 0.240 12 102462924 non coding transcript exon variant C/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs35767
rs35767
13 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs6214
rs6214
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2018 2018