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: rs1057516953
rs1057516953
3 0.925 0.160 7 107663412 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1057517303
rs1057517303
3 0.925 0.160 7 107710192 stop gained T/A;C snv 0.700 0
dbSNP: rs1060499808
rs1060499808
2 0.925 0.160 7 107704344 missense variant T/C snv 8.9E-06 0.700 1.000 2 2004 2018
dbSNP: rs111033199
rs111033199
3 0.882 0.160 7 107672245 missense variant G/A;C;T snv 1.8E-04; 4.0E-06 0.700 0
dbSNP: rs111033205
rs111033205
4 0.882 0.240 7 107661726 stop gained G/C;T snv 9.3E-05; 6.2E-06 0.700 0
dbSNP: rs111033212
rs111033212
4 0.851 0.240 7 107689054 missense variant T/A;C snv 4.0E-06; 8.6E-04 0.800 1.000 12 1998 2017
dbSNP: rs111033220
rs111033220
4 0.925 0.160 7 107690203 missense variant C/G;T snv 4.0E-06; 1.8E-04 0.800 1.000 33 1998 2019
dbSNP: rs111033242
rs111033242
3 0.925 0.160 7 107675050 missense variant C/G snv 4.8E-05 0.700 0
dbSNP: rs111033256
rs111033256
3 0.882 0.160 7 107675060 missense variant T/A snv 2.0E-04 3.5E-05 0.800 1.000 17 1998 2019
dbSNP: rs111033257
rs111033257
2 0.925 0.160 7 107700162 missense variant G/A snv 1.4E-05 0.700 1.000 4 1998 2016
dbSNP: rs111033303
rs111033303
2 0.925 0.160 7 107674970 missense variant G/T snv 3.0E-04 3.8E-04 0.800 1.000 12 1998 2017
dbSNP: rs111033305
rs111033305
4 0.925 0.160 7 107690200 missense variant G/A;C snv 1.0E-04; 8.0E-06 0.800 1.000 25 1998 2019
dbSNP: rs111033307
rs111033307
6 0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05 0.800 1.000 22 1998 2018
dbSNP: rs111033308
rs111033308
2 0.925 0.160 7 107695984 missense variant G/A;C snv 2.0E-05 6.3E-05 0.800 1.000 19 1998 2018
dbSNP: rs111033312
rs111033312
4 0.925 0.160 7 107698112 splice donor variant G/A;C;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs111033313
rs111033313
4 0.925 0.160 7 107683453 splice acceptor variant A/G snv 3.6E-04 1.7E-04 0.700 0
dbSNP: rs111033318
rs111033318
3 0.925 0.160 7 107702050 missense variant T/A snv 0.800 1.000 12 1998 2017
dbSNP: rs111033348
rs111033348
3 0.925 0.160 7 107674326 missense variant C/T snv 2.0E-05 7.0E-06 0.700 1.000 5 2000 2017
dbSNP: rs111033380
rs111033380
2 1.000 0.120 7 107674337 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs121908361
rs121908361
3 0.882 0.160 7 107689156 stop gained A/G;T snv 0.800 1.000 16 1998 2017
dbSNP: rs121908362
rs121908362
5 0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05 0.800 1.000 13 1998 2017
dbSNP: rs121908363
rs121908363
4 0.925 0.160 7 107710126 missense variant C/T snv 5.2E-05 2.8E-05 0.800 1.000 17 1998 2017
dbSNP: rs121908364
rs121908364
3 0.925 0.160 7 107689166 missense variant C/T snv 0.800 1.000 16 1998 2017
dbSNP: rs121908365
rs121908365
2 0.925 0.160 7 107672230 missense variant T/A;C snv 0.700 1.000 4 2002 2017
dbSNP: rs121908366
rs121908366
1 1.000 0.120 7 107696035 missense variant C/A snv 0.700 1.000 1 2008 2008