Source: ALL
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: rs1057518844
rs1057518844
2 1.000 0.040 16 3757288 missense variant C/T snv 0.700 0
dbSNP: rs1057518956
rs1057518956
3 0.925 0.080 10 31520308 stop gained C/T snv 0.700 0
dbSNP: rs267607093
rs267607093
14 0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs368869806
rs368869806
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs199752860
rs199752860
2 0.925 0.040 1 171652578 missense variant C/G snv 6.9E-04 1.5E-04 0.010 1.000 1 2000 2000
dbSNP: rs2234927
rs2234927
4 0.851 0.040 1 171638703 missense variant G/A;C snv 4.0E-06; 7.6E-04 0.010 1.000 1 2000 2000
dbSNP: rs199746824
rs199746824
6 0.807 0.040 1 171652139 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2001 2001
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2002 2002
dbSNP: rs74315337
rs74315337
2 0.925 0.040 1 171652476 stop gained G/A;C;T snv 7.2E-04; 4.0E-06; 4.0E-06 0.030 1.000 3 2000 2004
dbSNP: rs200710076
rs200710076
2 0.925 0.040 10 13109198 missense variant C/A;G;T snv 8.0E-06; 2.0E-05; 2.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs74315339
rs74315339
6 0.807 0.120 1 171652468 missense variant C/A snv 9.8E-04 1.3E-04 0.030 1.000 3 2005 2005
dbSNP: rs116529882
rs116529882
2 0.925 0.040 5 111110280 missense variant G/A snv 7.5E-04 8.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs35703638
rs35703638
1 1.000 0.040 5 111106140 missense variant G/A snv 8.3E-03 4.1E-03 0.010 1.000 1 2005 2005
dbSNP: rs553774660
rs553774660
1 1.000 0.040 11 89178097 missense variant G/T snv 0.010 1.000 1 2005 2005
dbSNP: rs79204362
rs79204362
10 0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 0.010 1.000 1 2005 2005
dbSNP: rs34595252
rs34595252
2 0.925 0.040 5 111119021 missense variant A/G snv 4.3E-03 4.5E-03 0.020 1.000 2 2005 2006
dbSNP: rs121909193
rs121909193
2 0.925 0.040 1 171636349 missense variant C/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1437969513
rs1437969513
1 1.000 0.040 6 1611203 missense variant C/T snv 1.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs17653265
rs17653265
2 1.000 0.040 6 121447605 missense variant C/T snv 8.1E-03 9.1E-03 0.010 1.000 1 2006 2006
dbSNP: rs74315331
rs74315331
3 0.882 0.040 1 171636010 missense variant A/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs74315336
rs74315336
4 0.851 0.040 1 171636173 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs886041355
rs886041355
1 1.000 0.040 6 1610901 stop gained G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs10152898
rs10152898
1 1.000 0.040 15 73962780 intergenic variant G/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs121909194
rs121909194
3 0.882 0.040 1 171636302 missense variant C/G snv 0.010 1.000 1 2007 2007
dbSNP: rs12440667
rs12440667
2 1.000 0.040 15 73939098 intron variant C/A;T snv 0.700 1.000 1 2007 2007