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: rs104893766
rs104893766
2 0.925 0.160 3 87262138 missense variant G/C snv 0.010 1.000 1 2006 2006
dbSNP: rs1169159883
rs1169159883
1 1.000 0.080 12 120994164 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs121917841
rs121917841
2 0.925 0.120 5 177994185 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs121917843
rs121917843
3 0.882 0.160 5 177994231 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1237859972
rs1237859972
1 1.000 0.080 2 25161178 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1292127844
rs1292127844
1 1.000 0.080 3 57198449 missense variant C/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1318234609
rs1318234609
1 1.000 0.080 4 94579531 missense variant T/C snv 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs137853100
rs137853100
2 0.925 0.120 5 177994152 missense variant C/T snv 3.6E-05 2.1E-05 0.010 1.000 1 2003 2003
dbSNP: rs142400016
rs142400016
1 1.000 0.080 9 136200631 missense variant G/A snv 4.8E-05 6.3E-05 0.010 1.000 1 2015 2015
dbSNP: rs1465556147
rs1465556147
1 1.000 0.080 3 57198805 missense variant T/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs199761861
rs199761861
2 0.925 0.080 14 56802204 missense variant G/C;T snv 2.1E-04; 1.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs201781653
rs201781653
2 0.925 0.080 6 32977805 missense variant C/A;T snv 4.1E-06; 1.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs768165720
rs768165720
2 0.925 0.120 3 57198784 missense variant C/T snv 7.6E-05 1.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs770886420
rs770886420
1 1.000 0.080 3 57198280 missense variant G/A snv 2.0E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs777331392
rs777331392
1 1.000 0.080 9 136199032 missense variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs779490520
rs779490520
1 1.000 0.080 1 180266520 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs780359925
rs780359925
2 0.925 0.160 3 87259977 missense variant G/A snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121917839
rs121917839
2 0.925 0.120 5 177993032 missense variant G/A snv 6.8E-05 4.9E-05 0.020 1.000 2 2002 2006
dbSNP: rs28936416
rs28936416
2 0.925 0.120 3 57199842 missense variant A/G snv 0.020 1.000 2 2003 2016
dbSNP: rs766234350
rs766234350
1 1.000 0.080 3 57198276 missense variant C/T snv 8.0E-06 2.8E-05 0.020 1.000 2 2011 2016
dbSNP: rs104893755
rs104893755
5 0.851 0.200 3 87259959 missense variant G/A snv 0.040 0.750 4 1998 2015
dbSNP: rs770374710
rs770374710
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs772390221
rs772390221
2 0.925 0.160 3 87261296 frameshift variant CTTTC/- delins 0.700 0