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: rs10428132
rs10428132
2 0.925 0.120 3 38736063 intron variant T/G snv 0.67 0.830 1.000 4 2013 2018
dbSNP: rs11708996
rs11708996
6 0.925 0.120 3 38592432 intron variant G/C snv 0.11 0.820 1.000 3 2013 2018
dbSNP: rs10428168
rs10428168
1 1.000 0.080 3 38738568 intron variant T/C snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs10494366
rs10494366
7 0.851 0.200 1 162115895 intron variant G/T snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs11129801
rs11129801
1 1.000 0.080 3 38708884 intron variant A/G snv 0.71 0.700 1.000 1 2013 2013
dbSNP: rs12638572
rs12638572
1 1.000 0.080 3 38746306 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs6599257
rs6599257
1 1.000 0.080 3 38763097 intron variant C/T snv 0.74 0.700 1.000 1 2013 2013
dbSNP: rs6798015
rs6798015
2 1.000 0.080 3 38757345 intron variant C/T snv 0.70 0.700 1.000 1 2013 2013
dbSNP: rs7428167
rs7428167
1 1.000 0.080 3 38736700 intron variant T/C snv 0.59 0.700 1.000 1 2013 2013
dbSNP: rs7430439
rs7430439
1 1.000 0.080 3 38762148 intron variant G/A snv 0.66 0.700 1.000 1 2013 2013
dbSNP: rs7641844
rs7641844
1 1.000 0.080 3 38760760 intron variant A/G snv 0.33 0.31 0.700 1.000 1 2013 2013
dbSNP: rs9874633
rs9874633
1 1.000 0.080 3 38730503 intron variant A/G snv 0.38 0.700 1.000 1 2013 2013
dbSNP: rs9388451
rs9388451
3 0.882 0.120 6 125769231 regulatory region variant T/A;C snv 0.830 1.000 4 2013 2017
dbSNP: rs137854601
rs137854601
10 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.720 1.000 18 1999 2018
dbSNP: rs1417036453
rs1417036453
2 0.925 0.080 3 38603999 stop gained G/A snv 4.0E-06 0.700 1.000 7 2002 2013
dbSNP: rs199473153
rs199473153
4 0.882 0.120 3 38597737 stop gained C/A;T snv 4.0E-06 0.700 1.000 6 2002 2015
dbSNP: rs757532106
rs757532106
9 0.763 0.120 3 38550500 stop gained G/A snv 4.5E-05 4.9E-05 0.700 1.000 6 2005 2017
dbSNP: rs199473284
rs199473284
2 0.925 0.120 3 38551487 stop gained G/A;C snv 8.0E-06 0.700 1.000 4 2007 2016
dbSNP: rs794728849
rs794728849
2 0.925 0.120 3 38613782 stop gained G/A;C snv 0.710 1.000 4 2009 2016
dbSNP: rs863225273
rs863225273
1 1.000 0.080 3 38554320 stop gained C/T snv 0.700 1.000 3 2004 2010
dbSNP: rs1060501135
rs1060501135
1 1.000 0.080 3 38581226 stop gained C/T snv 0.700 1.000 2 2010 2012
dbSNP: rs1553700699
rs1553700699
1 1.000 0.080 3 38586012 stop gained C/T snv 0.700 1.000 2 2005 2008
dbSNP: rs759924541
rs759924541
2 0.925 0.120 3 38579439 stop gained C/A;G;T snv 8.1E-06 0.710 1.000 2 2013 2017
dbSNP: rs794728865
rs794728865
2 0.925 0.120 3 38585903 stop gained G/A snv 0.700 1.000 2 2010 2012
dbSNP: rs794728940
rs794728940
1 1.000 0.080 3 38550542 stop gained G/A snv 1.2E-05 3.5E-05 0.700 1.000 2 2014 2017