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: rs121909650
rs121909650
1 1.000 0.040 5 180616464 missense variant C/G snv 0.800 1.000 10 1998 2015
dbSNP: rs121909651
rs121909651
1 1.000 0.040 5 180616455 missense variant A/G snv 0.800 1.000 10 1998 2015
dbSNP: rs121909652
rs121909652
1 1.000 0.040 5 180613101 missense variant G/A snv 0.800 1.000 10 1998 2015
dbSNP: rs121909653
rs121909653
1 1.000 0.040 5 180616482 missense variant T/C snv 0.800 1.000 10 1998 2015
dbSNP: rs121909654
rs121909654
1 1.000 0.040 5 180619680 missense variant C/T snv 0.800 1.000 10 1998 2015
dbSNP: rs121909655
rs121909655
1 1.000 0.040 5 180614142 missense variant A/G snv 0.800 1.000 10 1998 2015
dbSNP: rs121909656
rs121909656
1 1.000 0.040 5 180614083 missense variant C/T snv 0.800 1.000 10 1998 2015
dbSNP: rs121909657
rs121909657
1 1.000 0.040 5 180619749 missense variant C/T snv 8.2E-06 8.4E-05 0.800 1.000 10 1998 2015
dbSNP: rs267606818
rs267606818
1 1.000 0.040 5 180619743 missense variant C/T snv 0.800 1.000 10 1998 2015
dbSNP: rs1569124017
rs1569124017
1 1.000 0.040 22 46386401 splice donor variant C/T snv 0.700 0
dbSNP: rs1569133268
rs1569133268
1 1.000 0.040 22 46396747 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1569141899
rs1569141899
1 1.000 0.040 22 46408994 splice donor variant A/T snv 0.700 0
dbSNP: rs1569226110
rs1569226110
1 1.000 0.040 22 46535129 frameshift variant T/- delins 0.700 0
dbSNP: rs1569227576
rs1569227576
1 1.000 0.040 22 46536303 stop gained C/A snv 0.700 0
dbSNP: rs587776833
rs587776833
1 1.000 0.040 5 180614074 inframe deletion AGA/- delins 0.700 0
dbSNP: rs121909106
rs121909106
2 0.925 0.040 16 86567709 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs121909107
rs121909107
2 0.925 0.040 16 86567697 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs587777567
rs587777567
1 1.000 0.040 4 176711575 stop gained G/A snv 0.010 1.000 1 2014 2014