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: rs121918351
rs121918351
3 0.882 0.240 20 10658611 missense variant C/T snv 0.800 1.000 17 1997 2015
dbSNP: rs121918350
rs121918350
1 1.000 0.120 20 10658612 missense variant G/A snv 0.800 1.000 14 1997 2013
dbSNP: rs121918352
rs121918352
1 1.000 0.120 20 10672978 missense variant A/G snv 0.800 1.000 14 1997 2013
dbSNP: rs1032920906
rs1032920906
1 1.000 0.120 20 10672702 missense variant G/C snv 0.700 1.000 14 1997 2013
dbSNP: rs1282498658
rs1282498658
1 1.000 0.120 20 10672721 missense variant G/A snv 0.700 1.000 14 1997 2013
dbSNP: rs1555829676
rs1555829676
1 1.000 0.120 20 10658674 missense variant G/C snv 0.700 1.000 14 1997 2013
dbSNP: rs876661122
rs876661122
1 1.000 0.120 20 10641671 missense variant C/G snv 0.700 1.000 14 1997 2013
dbSNP: rs876661123
rs876661123
1 1.000 0.120 20 10672991 missense variant C/T snv 0.700 1.000 14 1997 2013
dbSNP: rs727504412
rs727504412
3 0.925 0.120 20 10645245 frameshift variant ACTG/- delins 0.700 1.000 5 1997 2015
dbSNP: rs1555827653
rs1555827653
1 1.000 0.120 20 10640815 frameshift variant ACTT/- delins 0.700 1.000 4 1999 2016
dbSNP: rs876660980
rs876660980
1 1.000 0.120 20 10656450 stop gained G/A;C snv 4.0E-06 0.700 1.000 3 1998 2015
dbSNP: rs1437309558
rs1437309558
1 1.000 0.120 20 10642587 stop gained G/A snv 4.0E-06 0.700 1.000 2 1998 2015
dbSNP: rs372984801
rs372984801
1 1.000 0.120 20 10641155 stop gained G/A;T snv 2.4E-05 0.700 1.000 2 1999 2015
dbSNP: rs863223650
rs863223650
1 1.000 0.120 20 10650325 missense variant C/T snv 0.700 1.000 2 2000 2012
dbSNP: rs1555827769
rs1555827769
1 1.000 0.120 20 10641588 frameshift variant AGGGGTGGACGAAGC/TGCCCTGG delins 0.700 1.000 1 2006 2006
dbSNP: rs1060501347
rs1060501347
1 1.000 0.120 20 10649102 frameshift variant -/A delins 0.700 0
dbSNP: rs1060501349
rs1060501349
1 1.000 0.120 20 10641536 frameshift variant T/- delins 0.700 0
dbSNP: rs1060501350
rs1060501350
1 1.000 0.120 20 10641688 stop gained C/T snv 0.700 0
dbSNP: rs1060501351
rs1060501351
1 1.000 0.120 20 10658619 stop gained A/T snv 0.700 0
dbSNP: rs1060501352
rs1060501352
1 1.000 0.120 20 10641532 stop gained G/T snv 0.700 0
dbSNP: rs1294950721
rs1294950721
27 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
dbSNP: rs1555827729
rs1555827729
1 1.000 0.120 20 10641194 frameshift variant -/A delins 0.700 0
dbSNP: rs1555828546
rs1555828546
1 1.000 0.120 20 10647966 frameshift variant -/G delins 0.700 0
dbSNP: rs1555829037
rs1555829037
1 1.000 0.120 20 10652205 frameshift variant G/- del 0.700 0
dbSNP: rs1555829660
rs1555829660
1 1.000 0.120 20 10658528 missense variant A/G snv 0.700 0