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: rs121912691
rs121912691
2 0.925 0.120 2 44312653 missense variant T/A;C snv 9.2E-05; 2.5E-03 0.840 1.000 28 1994 2017
dbSNP: rs201502095
rs201502095
1 1.000 0.120 2 44312607 missense variant C/A;G;T snv 8.0E-06; 8.4E-05 0.800 1.000 17 1994 2015
dbSNP: rs121908480
rs121908480
1 1.000 0.120 19 32864261 missense variant C/T snv 2.7E-04 1.7E-04 0.800 1.000 14 1999 2015
dbSNP: rs121912693
rs121912693
1 1.000 0.120 2 44320614 missense variant T/C snv 0.800 1.000 13 1994 2012
dbSNP: rs121912694
rs121912694
1 1.000 0.120 2 44280827 missense variant G/A;T snv 1.6E-05; 8.0E-06 0.800 1.000 13 1994 2012
dbSNP: rs121912695
rs121912695
1 1.000 0.120 2 44320536 missense variant C/G;T snv 1.2E-05 0.800 1.000 13 1994 2012
dbSNP: rs121912696
rs121912696
1 1.000 0.120 2 44320424 missense variant C/A;T snv 1.6E-05; 4.0E-06 0.800 1.000 13 1994 2012
dbSNP: rs121912697
rs121912697
1 1.000 0.120 2 44301076 missense variant G/A snv 3.6E-05 7.0E-06 0.800 1.000 13 1994 2012
dbSNP: rs121908479
rs121908479
2 0.925 0.120 19 32862557 missense variant C/T snv 4.0E-06 0.800 1.000 11 1999 2012
dbSNP: rs121908482
rs121908482
1 1.000 0.120 19 32862482 missense variant C/T snv 8.0E-06 0.800 1.000 11 1999 2012
dbSNP: rs121908484
rs121908484
1 1.000 0.120 19 32843932 missense variant G/A snv 8.8E-05 4.2E-05 0.800 1.000 11 1999 2012
dbSNP: rs121908485
rs121908485
1 1.000 0.120 19 32864733 missense variant A/G snv 0.800 1.000 11 1999 2012
dbSNP: rs121908486
rs121908486
1 1.000 0.120 19 32859932 missense variant G/A snv 1.1E-04 1.4E-04 0.800 1.000 11 1999 2012
dbSNP: rs121908487
rs121908487
1 1.000 0.120 19 32862127 missense variant T/C snv 1.1E-04 1.2E-04 0.800 1.000 11 1999 2012
dbSNP: rs121908483
rs121908483
1 1.000 0.120 19 32859939 missense variant C/T snv 8.0E-06 7.0E-06 0.800 1.000 10 1999 2010
dbSNP: rs79389353
rs79389353
1 1.000 0.120 19 32862521 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.800 1.000 9 1999 2015
dbSNP: rs79987078
rs79987078
1 1.000 0.120 19 32864206 missense variant G/A snv 1.9E-04 2.2E-04 0.800 1.000 9 2001 2017
dbSNP: rs140873167
rs140873167
1 1.000 0.120 19 32862151 missense variant G/A;C;T snv 4.0E-05; 1.2E-05 0.800 1.000 5 2002 2015
dbSNP: rs369641941
rs369641941
2 0.925 0.120 2 44281423 missense variant C/G;T snv 9.1E-05 0.710 1.000 13 1994 2013
dbSNP: rs200483989
rs200483989
1 1.000 0.120 2 44286074 stop gained C/T snv 3.9E-04 1.9E-04 0.710 1.000 6 1995 2009
dbSNP: rs1233216697
rs1233216697
1 1.000 0.120 2 44280833 missense variant T/C snv 7.0E-06 0.700 1.000 12 1994 2010
dbSNP: rs139251285
rs139251285
1 1.000 0.120 2 44312619 missense variant C/T snv 2.4E-05 7.0E-06 0.700 1.000 12 1994 2010
dbSNP: rs140317484
rs140317484
1 1.000 0.120 2 44280851 missense variant C/A;T snv 8.0E-06; 2.7E-03 0.700 1.000 12 1994 2010
dbSNP: rs141944551
rs141944551
1 1.000 0.120 2 44320380 missense variant G/A snv 8.0E-05 9.1E-05 0.700 1.000 12 1994 2010
dbSNP: rs144162964
rs144162964
1 1.000 0.120 2 44312634 missense variant T/C snv 8.2E-04 4.3E-04 0.700 1.000 12 1994 2010