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: rs587778556
rs587778556
2 2 177231705 missense variant G/A snv 3.2E-05 4.9E-05 0.020 1.000 2 2014 2018
dbSNP: rs755135182
rs755135182
2 2 177231657 missense variant G/A snv 4.0E-06 0.020 1.000 2 2014 2018
dbSNP: rs893595382
rs893595382
1 17 7196908 missense variant G/A snv 4.0E-06 7.0E-06 0.020 1.000 2 2015 2018
dbSNP: rs1005752506
rs1005752506
1 7 38461398 missense variant G/A snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1235134025
rs1235134025
1 5 96740769 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1300858963
rs1300858963
OGA
1 10 101799033 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1348073540
rs1348073540
1 10 48431259 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1411928276
rs1411928276
DCT
1 13 94479251 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1424794503
rs1424794503
1 15 88899478 missense variant G/A snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs281860580
rs281860580
1 6 31270083 missense variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs376388064
rs376388064
1 6 43782006 missense variant C/T snv 2.8E-05 3.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs752410089
rs752410089
1 5 96741548 missense variant C/G;T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs760073870
rs760073870
1 1 223752954 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2002 2002
dbSNP: rs768194029
rs768194029
1 20 51523286 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs769483065
rs769483065
1 14 102085426 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs775645890
rs775645890
1 7 76515192 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs776045205
rs776045205
1 5 96747369 missense variant C/A;T snv 6.4E-05; 2.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs779612015
rs779612015
1 7 76515186 missense variant C/T snv 4.7E-06 0.010 1.000 1 2017 2017
dbSNP: rs780325052
rs780325052
1 5 96746417 missense variant C/T snv 2.0E-05 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.010 1.000 1 2018 2018
dbSNP: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.100 0.952 21 2001 2020
dbSNP: rs63750424
rs63750424
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.070 1.000 7 2002 2018
dbSNP: rs63750756
rs63750756
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.030 1.000 3 1999 2007
dbSNP: rs143624519
rs143624519
17 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.060 1.000 6 2011 2019
dbSNP: rs242557
rs242557
12 0.752 0.200 17 45942346 intron variant G/A snv 0.36 0.010 1.000 1 2019 2019