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: rs1463326176
rs1463326176
4 0.851 0.200 2 208124291 frameshift variant TGGG/- del 0.060 1.000 6 2005 2019
dbSNP: rs28931605
rs28931605
6 0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05 0.060 1.000 6 2005 2019
dbSNP: rs121909596
rs121909596
3 0.925 0.040 2 208124188 missense variant C/T snv 0.030 1.000 3 2005 2018
dbSNP: rs121909595
rs121909595
3 0.925 0.040 2 208124321 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs121909598
rs121909598
3 0.882 0.040 2 208121728 stop gained C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs150857132
rs150857132
4 0.851 0.200 2 208124183 missense variant C/A;T snv 4.4E-04; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs778768887
rs778768887
1 1.000 0.040 2 208124472 start lost A/G snv 1.7E-05 0.010 1.000 1 2011 2011
dbSNP: rs886055527
rs886055527
1 1.000 0.040 2 208121903 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006