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: rs11089788
rs11089788
5 0.851 0.120 22 36355056 intron variant C/A snv 0.46 0.010 1.000 1 2011 2011
dbSNP: rs2032487
rs2032487
3 0.882 0.080 22 36299382 intron variant C/T snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs2413396
rs2413396
2 0.925 0.080 22 36312039 intron variant C/G;T snv 0.88 0.010 1.000 1 2011 2011
dbSNP: rs3752462
rs3752462
7 0.827 0.160 22 36314138 splice region variant T/C snv 0.57 0.53 0.010 1.000 1 2012 2012
dbSNP: rs4821480
rs4821480
9 0.807 0.160 22 36299201 intron variant G/T snv 0.78 0.010 1.000 1 2011 2011