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: rs111584802
rs111584802
1 1.000 0.080 5 75587055 missense variant A/G snv 0.700 0
dbSNP: rs121908698
rs121908698
7 0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04 0.700 0
dbSNP: rs121908701
rs121908701
1 1.000 0.080 22 28725027 missense variant C/T snv 1.4E-04 6.3E-05 0.700 0
dbSNP: rs121908702
rs121908702
4 0.882 0.120 22 28711986 stop gained C/A;G;T snv 8.0E-06; 4.0E-06; 7.6E-05 0.700 0
dbSNP: rs121909231
rs121909231
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
dbSNP: rs121913286
rs121913286
23 0.677 0.280 3 179218306 missense variant C/A;G snv 0.700 0
dbSNP: rs121913293
rs121913293
18 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 0
dbSNP: rs1224040268
rs1224040268
12 0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 0.700 0
dbSNP: rs1304454699
rs1304454699
1 1.000 0.080 5 75590429 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs1340026226
rs1340026226
AR
3 1.000 0.080 X 67711662 missense variant G/A snv 9.5E-06 0.700 0
dbSNP: rs137852564
rs137852564
AR
5 0.827 0.240 X 67722976 missense variant G/A;T snv 0.800 0
dbSNP: rs137852567
rs137852567
AR
3 0.882 0.200 X 67717595 missense variant A/G snv 0.700 0
dbSNP: rs137852580
rs137852580
AR
2 0.925 0.080 X 67723711 missense variant C/G;T snv 0.700 0
dbSNP: rs137852582
rs137852582
AR
2 0.925 0.080 X 67723786 missense variant A/G snv 0.700 0
dbSNP: rs137852583
rs137852583
AR
2 0.925 0.080 X 67711680 missense variant G/A snv 0.700 0
dbSNP: rs137852584
rs137852584
AR
2 0.925 0.080 X 67711459 missense variant G/A snv 0.700 0
dbSNP: rs137852591
rs137852591
AR
4 0.851 0.200 X 67721909 missense variant C/G snv 1.4E-03 1.4E-03 0.700 0
dbSNP: rs137853009
rs137853009
2 0.925 0.080 22 28725030 missense variant C/A;T snv 4.0E-06; 6.0E-05 0.700 0
dbSNP: rs137853010
rs137853010
3 0.882 0.120 22 28725028 missense variant G/A;C snv 1.1E-04 0.700 0
dbSNP: rs137853011
rs137853011
16 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 0
dbSNP: rs138454018
rs138454018
AR
1 1.000 0.080 X 67546171 missense variant C/A;T snv 4.4E-05; 4.9E-05 0.700 0
dbSNP: rs139591993
rs139591993
1 1.000 0.080 5 75596275 missense variant A/C;T snv 4.0E-06 0.700 0
dbSNP: rs141568342
rs141568342
2 1.000 0.080 22 28734532 missense variant C/T snv 1.6E-04 1.5E-04 0.700 0
dbSNP: rs142173175
rs142173175
1 1.000 0.080 1 22906770 missense variant T/C snv 1.2E-03 4.7E-03 0.700 0
dbSNP: rs143611747
rs143611747
1 1.000 0.080 22 28699893 missense variant C/A;G;T snv 4.0E-06; 8.0E-06; 4.0E-06; 4.8E-05 0.700 0