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: rs121912939
rs121912939
3 0.882 0.160 21 45989617 missense variant G/A;C;T snv 0.800 1.000 11 1994 2017
dbSNP: rs121912936
rs121912936
1 1.000 0.120 21 45984403 missense variant A/G snv 0.800 1.000 7 1996 2017
dbSNP: rs121912935
rs121912935
1 1.000 0.120 21 45990792 missense variant G/A;T snv 0.800 1.000 5 1996 2010
dbSNP: rs121912940
rs121912940
1 1.000 0.120 21 46115881 missense variant G/A snv 0.800 1.000 5 1996 2010
dbSNP: rs267606750
rs267606750
1 1.000 0.120 21 46125509 missense variant G/A snv 0.800 1.000 3 2002 2010
dbSNP: rs121434555
rs121434555
1 1.000 0.120 2 237367010 missense variant A/C snv 0.800 1.000 1 2010 2010
dbSNP: rs267606747
rs267606747
2 0.925 0.160 21 46126144 missense variant T/C snv 4.0E-06 0.800 1.000 1 2010 2010
dbSNP: rs794727188
rs794727188
1 1.000 0.120 2 237360131 missense variant C/T snv 0.800 1.000 1 2010 2010
dbSNP: rs117725825
rs117725825
1 1.000 0.120 21 46132287 missense variant C/G;T snv 2.5E-03 0.800 0
dbSNP: rs121434553
rs121434553
1 1.000 0.120 2 237367151 missense variant C/T snv 0.800 0
dbSNP: rs398123643
rs398123643
2 1.000 0.120 21 45989626 missense variant G/A snv 0.710 1.000 7 2010 2019
dbSNP: rs121912938
rs121912938
3 0.882 0.160 21 45989129 missense variant G/A snv 0.700 1.000 9 1994 2014
dbSNP: rs1556425566
rs1556425566
1 1.000 0.120 21 45989753 missense variant G/A snv 0.700 1.000 6 1993 2013
dbSNP: rs138049094
rs138049094
1 1.000 0.120 2 237369064 missense variant T/C snv 5.1E-04 3.0E-04 0.700 1.000 5 1998 2010
dbSNP: rs1556425468
rs1556425468
1 1.000 0.120 21 45989103 missense variant G/T snv 0.700 1.000 5 1993 2013
dbSNP: rs201093313
rs201093313
1 1.000 0.120 21 45989100 missense variant C/G;T snv 4.0E-06; 2.4E-05 0.700 1.000 5 1996 2010
dbSNP: rs267606748
rs267606748
3 0.882 0.160 21 46115917 missense variant G/A snv 0.700 1.000 5 1993 2013
dbSNP: rs35227432
rs35227432
1 1.000 0.120 2 237379103 missense variant C/A;T snv 8.0E-06; 1.5E-03 0.700 1.000 5 1998 2010
dbSNP: rs397515332
rs397515332
1 1.000 0.120 2 237361138 missense variant C/G;T snv 0.700 1.000 5 1994 2017
dbSNP: rs398123631
rs398123631
2 0.925 0.120 21 45990827 splice donor variant G/A snv 0.700 1.000 5 1999 2013
dbSNP: rs727502827
rs727502827
1 1.000 0.120 21 46116010 missense variant G/A;T snv 0.700 1.000 5 1993 2013
dbSNP: rs747900252
rs747900252
6 0.925 0.160 21 46125776 intron variant G/A snv 1.1E-04 7.7E-05 0.700 1.000 5 2009 2015
dbSNP: rs886043321
rs886043321
1 1.000 0.120 21 45990791 missense variant G/C;T snv 0.700 1.000 5 2005 2018
dbSNP: rs886043351
rs886043351
1 1.000 0.120 21 45987638 missense variant G/A;T snv 0.700 1.000 5 1993 2013
dbSNP: rs886043737
rs886043737
1 1.000 0.120 2 237360158 missense variant C/T snv 0.700 1.000 5 1993 2013