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: rs63751273
rs63751273
26 0.692 0.250 17 46010389 missense variant C/T snp 0.100 0.923 13 2001 2018
dbSNP: rs63751438
rs63751438
12 0.784 0.107 17 46010388 missense variant C/T snp 0.070 1.000 7 2009 2015
dbSNP: rs63750424
rs63750424
25 0.692 0.214 17 46024061 missense variant C/T snp 1.6E-05 0.050 1.000 5 1999 2016
dbSNP: rs63750756
rs63750756
18 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.030 1.000 3 1999 2007
dbSNP: rs63750512
rs63750512
5 0.846 0.107 17 46024010 missense variant G/A,C snp 1.2E-05 0.020 1.000 2 1999 2001
dbSNP: rs63750570
rs63750570
7 0.821 0.107 17 46018629 missense variant G/A snp 0.020 1.000 2 2001 2003
dbSNP: rs143624519
rs143624519
12 0.756 0.250 17 45991484 missense variant G/A,T snp 1.5E-03; 1.2E-05 1.5E-03 0.010 1.000 1 2012 2012
dbSNP: rs1768208
rs1768208
4 0.878 0.179 3 39481512 intron variant T/C snp 0.76 0.010 1.000 1 2014 2014
dbSNP: rs281860580
rs281860580
1 6 31270083 stop gained G/A snp 0.010 1.000 1 2015 2015
dbSNP: rs368482207
rs368482207
4 0.878 0.107 17 45983823 missense variant C/T snp 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs538738238
rs538738238
1 1 1217788 missense variant G/A snp 1.7E-05 0.010 1.000 1 2013 2013
dbSNP: rs587778556
rs587778556
2 2 177231705 missense variant G/A snp 3.2E-05 3.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs63750129
rs63750129
3 0.923 0.107 17 45996612 missense variant A/C snp 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs63750376
rs63750376
8 0.784 0.107 17 45996657 missense variant G/T snp 0.010 < 0.001 1 2003 2003
dbSNP: rs63750635
rs63750635
4 0.878 0.071 17 46014286 missense variant C/T snp 0.010 1.000 1 2002 2002
dbSNP: rs755135182
rs755135182
2 2 177231657 missense variant G/A snp 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs8070723
rs8070723
8 0.846 0.214 17 46003698 intron variant A/G snp 0.16 0.010 1.000 1 2014 2014
dbSNP: rs866604606
rs866604606
4 0.878 0.107 22 21772907 missense variant G/A snp 0.010 1.000 1 2004 2004