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: rs121918467
rs121918467
23 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs1057519389
rs1057519389
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs763028380
rs763028380
12 0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs1057518914
rs1057518914
14 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
dbSNP: rs1559155800
rs1559155800
7 1.000 0.200 2 219568150 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1559155954
rs1559155954
9 0.851 0.200 2 219568211 frameshift variant -/A delins 0.700 1.000 1 2019 2019
dbSNP: rs1060503383
rs1060503383
14 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
dbSNP: rs1569355102
rs1569355102
51 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
dbSNP: rs875989803
rs875989803
15 0.827 0.200 X 41343249 stop gained G/T snv 0.700 0
dbSNP: rs1561873941
rs1561873941
10 0.925 0.200 6 43040335 frameshift variant T/- del 0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767
14 1.000 0.200 6 43041036 stop gained G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336
13 0.807 0.200 6 43050050 stop gained C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1561898352
rs1561898352
8 0.882 0.200 6 43052582 frameshift variant -/A delins 0.700 1.000 1 2019 2019
dbSNP: rs66527965
rs66527965
31 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
dbSNP: rs1364709483
rs1364709483
36 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
dbSNP: rs139751598
rs139751598
13 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 0.700 0