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: rs7604115
rs7604115
2 2 233749470 intron variant C/T snv 0.37 0.800 1.000 1 2009 2015
dbSNP: rs3755319
rs3755319
5 0.925 0.120 2 233758936 intron variant A/C;G;T snv 0.800 1.000 1 2009 2015
dbSNP: rs4477910
rs4477910
5 1.000 2 233735091 intron variant A/T snv 0.46 0.700 1.000 1 2015 2015
dbSNP: rs4663969
rs4663969
5 1.000 2 233746667 intron variant C/A;T snv 0.800 1.000 1 2009 2015
dbSNP: rs929596
rs929596
7 0.925 0.040 2 233765830 intron variant A/G snv 0.32 0.800 1.000 3 2012 2019
dbSNP: rs887829
rs887829
8 0.763 0.280 2 233759924 intron variant C/T snv 0.36 0.800 1.000 6 2009 2015
dbSNP: rs4148325
rs4148325
8 0.851 0.080 2 233764663 intron variant C/T snv 0.36 0.800 1.000 5 2011 2019