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: rs587783390
rs587783390
2 0.925 0.120 9 120409290 stop gained G/A snv 2.6E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs199634446
rs199634446
1 1.000 0.120 1 47251165 missense variant G/A;C snv 4.4E-05; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs202080674
rs202080674
4 0.851 0.160 10 49482848 missense variant G/A snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1057519087
rs1057519087
4 0.925 0.120 1 39967632 missense variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs587777333
rs587777333
3 0.925 0.120 3 49104420 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs730882242
rs730882242
7 0.807 0.280 5 141573518 stop gained G/A snv 0.020 1.000 2 2015 2016
dbSNP: rs201053854
rs201053854
2 0.925 0.200 19 36058791 missense variant G/T snv 6.6E-04 1.6E-04 0.010 1.000 1 2016 2016
dbSNP: rs587777623
rs587777623
8 0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs774912957
rs774912957
2 0.925 0.200 19 36054999 missense variant G/C;T snv 7.3E-05 0.010 1.000 1 2016 2016
dbSNP: rs1554263624
rs1554263624
2 0.925 0.120 7 6391932 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs1554264268
rs1554264268
2 0.925 0.120 7 6402337 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs587777034
rs587777034
3 0.882 0.120 5 62361319 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs775277800
rs775277800
4 0.851 0.120 18 70166989 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1131692040
rs1131692040
4 0.882 0.160 X 154399844 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1289819331
rs1289819331
1 1.000 0.120 11 93793847 missense variant G/A snv 8.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs1372862248
rs1372862248
2 1.000 0.120 16 46926991 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs727505397
rs727505397
3 0.882 0.240 X 41553782 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1018001612
rs1018001612
2 0.925 0.120 6 161548873 missense variant C/T snv 2.8E-05 0.020 1.000 2 2019 2019
dbSNP: rs773550500
rs773550500
2 0.925 0.120 6 162054128 missense variant C/T snv 4.0E-06 0.020 1.000 2 2019 2019
dbSNP: rs1455698435
rs1455698435
1 1.000 0.120 7 15385551 frameshift variant T/- delins 8.0E-06 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1799964
rs1799964
47 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs199422124
rs199422124
2 0.925 0.120 8 6409336 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs34832477
rs34832477
3 0.925 0.120 10 133293066 missense variant G/A snv 4.0E-04 1.6E-03 0.010 1.000 1 2019 2019
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2019 2019
dbSNP: rs766476013
rs766476013
1 1.000 0.120 8 6409342 missense variant C/G snv 1.6E-05 7.0E-06 0.010 1.000 1 2019 2019