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: rs199473603
rs199473603
3 0.882 0.120 3 38562467 missense variant G/A snv 1.8E-04 2.1E-04 0.710 1.000 1 2007 2007
dbSNP: rs749697698
rs749697698
3 0.882 0.120 3 38551520 inframe deletion AAG/- delins 2.0E-05 0.700 1.000 3 2000 2009
dbSNP: rs199473124
rs199473124
4 0.851 0.120 3 38603902 missense variant A/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs72549410
rs72549410
4 0.851 0.120 3 38606058 missense variant C/T snv 0.700 0
dbSNP: rs41261344
rs41261344
11 0.763 0.120 3 38575385 missense variant C/T snv 5.4E-03 2.2E-03 0.050 1.000 5 2006 2019
dbSNP: rs137854600
rs137854600
6 0.807 0.120 3 38551504 missense variant C/A;T snv 0.040 1.000 4 1998 2004
dbSNP: rs137854601
rs137854601
10 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.030 1.000 3 2000 2014
dbSNP: rs199473317
rs199473317
3 0.882 0.120 3 38551003 missense variant T/C snv 0.030 1.000 3 2000 2010
dbSNP: rs199473096
rs199473096
3 0.882 0.120 3 38606751 missense variant G/A snv 0.020 1.000 2 2007 2015
dbSNP: rs36210423
rs36210423
3 0.882 0.120 3 38603887 missense variant G/A;C;T snv 2.1E-04; 4.9E-03 0.020 0.500 2 2008 2010
dbSNP: rs45489199
rs45489199
2 0.925 0.120 3 38550356 missense variant G/C;T snv 1.1E-03 0.020 1.000 2 2007 2011
dbSNP: rs12720452
rs12720452
5 0.882 0.120 3 38603758 missense variant C/T snv 2.9E-04 2.9E-04 0.010 < 0.001 1 2008 2008
dbSNP: rs137854614
rs137854614
3 0.882 0.120 3 38550988 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs137854615
rs137854615
4 0.851 0.120 3 38550989 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs199473133
rs199473133
3 0.882 0.120 3 38603747 missense variant G/A snv 3.1E-05 6.3E-05 0.010 1.000 1 2003 2003
dbSNP: rs199473203
rs199473203
1 1.000 0.120 3 38575345 stop gained C/A;T snv 0.010 < 0.001 1 2008 2008
dbSNP: rs199473282
rs199473282
5 0.827 0.120 3 38551513 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs199473311
rs199473311
3 0.882 0.120 3 38551070 missense variant T/C snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs199473315
rs199473315
2 0.925 0.120 3 38551015 missense variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs199473321
rs199473321
2 0.925 0.120 3 38550856 missense variant T/C snv 0.010 1.000 1 1998 1998
dbSNP: rs199473339
rs199473339
2 0.925 0.120 3 38605953 stop gained C/A;T snv 6.3E-04 1.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs199473604
rs199473604
4 0.882 0.120 3 38560394 missense variant G/T snv 0.010 1.000 1 2009 2009
dbSNP: rs199473615
rs199473615
2 0.925 0.120 3 38555742 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs201002736
rs201002736
1 1.000 0.120 3 38614031 stop gained G/A;T snv 8.3E-05; 8.8E-06 0.010 1.000 1 2007 2007
dbSNP: rs28937316
rs28937316
3 0.882 0.120 3 38551441 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2019 2019