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: rs1042151
rs1042151
2 0.925 0.240 6 33080884 missense variant A/G snv 0.18 0.25 0.700 1.000 1 2013 2013
dbSNP: rs2074190
rs2074190
1 1.000 0.120 17 47733844 synonymous variant A/G;T snv 0.30; 8.4E-06 0.010 1.000 1 2005 2005
dbSNP: rs4612666
rs4612666
10 0.763 0.440 1 247435768 intron variant T/C snv 0.65 0.010 1.000 1 2009 2009
dbSNP: rs756244998
rs756244998
1 1.000 0.120 17 47744924 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs758268690
rs758268690
1 1.000 0.120 17 47744918 frameshift variant -/G delins 0.010 1.000 1 2005 2005
dbSNP: rs775307557
rs775307557
1 1.000 0.120 8 103885726 missense variant C/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005