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: rs1554897271
rs1554897271
1 1.000 0.040 10 87925544 stop gained A/T snv 0.700 0
dbSNP: rs34301344
rs34301344
22 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 0.030 1.000 3 2006 2006
dbSNP: rs755100942
rs755100942
17 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 0.030 1.000 3 2006 2006
dbSNP: rs10254120
rs10254120
5 0.851 0.080 7 6005996 missense variant C/A;G;T snv 7.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs121912664
rs121912664
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs139615282
rs139615282
1 1.000 0.040 11 35211387 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs180177132
rs180177132
11 0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs201671325
rs201671325
2 0.925 0.080 7 5982849 missense variant C/T snv 7.6E-04 7.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs28934573
rs28934573
28 0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs3803185
rs3803185
19 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs55633281
rs55633281
1 1.000 0.040 3 133652627 missense variant G/A snv 5.5E-02 6.1E-02 0.010 1.000 1 2006 2006
dbSNP: rs55705857
rs55705857
16 0.732 0.080 8 129633446 intron variant A/G snv 3.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs587779134
rs587779134
1 1.000 0.040 2 47476429 missense variant C/G snv 0.010 1.000 1 2014 2014
dbSNP: rs587779163
rs587779163
4 0.882 0.160 2 47410220 missense variant T/G snv 0.010 1.000 1 2014 2014
dbSNP: rs587779338
rs587779338
7 0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs72552387
rs72552387
3 0.882 0.080 8 16168568 missense variant C/A;G;T snv 1.6E-03; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs876659602
rs876659602
3 0.882 0.080 13 32337468 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs876660734
rs876660734
1 1.000 0.040 17 43094207 missense variant A/G;T snv 0.010 1.000 1 2006 2006