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: rs1554919471
rs1554919471
4 0.925 0.200 11 2768861 frameshift variant G/- delins 0.700 1.000 1 2018 2018
dbSNP: rs1554920808
rs1554920808
3 1.000 0.120 11 2776991 missense variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs1057518916
rs1057518916
1 3 38606034 stop gained G/A snv 0.700 0
dbSNP: rs1178187217
rs1178187217
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs1247665387
rs1247665387
14 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
dbSNP: rs1554430943
rs1554430943
4 0.925 0.160 7 150974821 missense variant C/T snv 0.700 0
dbSNP: rs199473442
rs199473442
3 1.000 0.120 11 2445103 missense variant C/G;T snv 0.700 0
dbSNP: rs201943194
rs201943194
38 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 0.700 0
dbSNP: rs543860009
rs543860009
33 0.742 0.320 2 178589003 stop gained G/A;T snv 0.700 0
dbSNP: rs766265889
rs766265889
11 0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs868064163
rs868064163
13 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs878854378
rs878854378
33 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
dbSNP: rs1805123
rs1805123
18 0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 0.020 1.000 2 2011 2017
dbSNP: rs199472730
rs199472730
5 0.882 0.120 11 2572895 missense variant C/G;T snv 0.020 1.000 2 2011 2018
dbSNP: rs767910122
rs767910122
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.020 1.000 2 2011 2017
dbSNP: rs794728448
rs794728448
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.020 1.000 2 2011 2017
dbSNP: rs1047624774
rs1047624774
2 1.000 0.120 1 203700807 missense variant T/C snv 4.0E-06 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs104894485
rs104894485
4 0.882 0.080 15 73325378 missense variant C/T snv 3.6E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs104894585
rs104894585
5 0.851 0.120 17 70175263 missense variant C/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs11551437
rs11551437
3 1.000 0.080 2 47161833 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs120074179
rs120074179
3 0.925 0.120 11 2572089 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs120074193
rs120074193
7 0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs121434500
rs121434500
5 0.851 0.120 20 33410203 missense variant G/A snv 2.0E-05 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs121912504
rs121912504
6 0.851 0.200 7 150951711 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1254179611
rs1254179611
3 1.000 0.120 7 150958295 missense variant G/A snv 0.010 1.000 1 2002 2002