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: rs763735590
rs763735590
1 1.000 0.320 4 15580087 frameshift variant GT/- delins 0.700 1.000 1 2015 2015
dbSNP: rs773881370
rs773881370
1 1.000 0.320 4 15560607 missense variant A/T snv 2.4E-05 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs778858648
rs778858648
1 1.000 0.320 4 15599632 missense variant T/G snv 8.0E-06 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs781252161
rs781252161
5 0.827 0.360 4 15533284 stop gained C/T snv 1.8E-05 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs863225168
rs863225168
1 1.000 0.320 4 15589654 missense variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs863225169
rs863225169
1 1.000 0.320 4 15567482 missense variant G/C snv 0.700 1.000 1 2015 2015
dbSNP: rs863225170
rs863225170
1 1.000 0.320 4 15569346 missense variant T/C snv 9.8E-06 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs863225171
rs863225171
1 1.000 0.320 4 15574297 frameshift variant -/GGTT delins 0.700 1.000 1 2015 2015
dbSNP: rs863225172
rs863225172
1 1.000 0.320 4 15579967 splice acceptor variant G/T snv 5.2E-05 0.700 1.000 1 2015 2015
dbSNP: rs863225173
rs863225173
1 1.000 0.320 4 15563474 missense variant T/C snv 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs863225174
rs863225174
1 1.000 0.320 4 15601303 missense variant A/G snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs863225175
rs863225175
1 1.000 0.320 4 15601404 frameshift variant CTCT/- delins 0.700 1.000 1 2015 2015
dbSNP: rs863225176
rs863225176
1 1.000 0.320 4 15589591 missense variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs863225177
rs863225177
1 1.000 0.320 4 15533228 inframe deletion AGA/- delins 0.700 1.000 1 2015 2015
dbSNP: rs863225178
rs863225178
1 1.000 0.320 4 15557349 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs863225179
rs863225179
1 1.000 0.320 4 15597460 missense variant A/C snv 0.700 1.000 1 2015 2015
dbSNP: rs863225181
rs863225181
1 1.000 0.320 4 15570501 splice region variant G/A snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1392635342
rs1392635342
1 1.000 0.320 4 15511290 frameshift variant -/TA delins 4.3E-06 0.700 0
dbSNP: rs1478902342
rs1478902342
1 1.000 0.320 4 15599591 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1560184664
rs1560184664
3 0.882 0.360 4 15563461 frameshift variant TA/- delins 0.700 0
dbSNP: rs186264635
rs186264635
1 1.000 0.320 4 15502836 missense variant T/C;G snv 4.1E-06; 1.3E-03 0.700 0
dbSNP: rs199768782
rs199768782
1 1.000 0.320 4 15540994 missense variant C/A;T snv 6.4E-06; 2.4E-03 0.700 0
dbSNP: rs386833750
rs386833750
6 0.807 0.360 4 15563485 stop gained C/A;G;T snv 2.0E-05; 2.0E-05 0.700 0
dbSNP: rs764719093
rs764719093
3 0.882 0.360 4 15557361 stop gained C/A;T snv 4.0E-06; 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs797045437
rs797045437
3 0.882 0.320 4 15597432 frameshift variant GACA/- delins 0.700 0