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: rs1131692272
rs1131692272
9 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0
dbSNP: rs374993554
rs374993554
3 0.925 7 100113899 missense variant A/G;T snv 3.2E-05 0.700 0
dbSNP: rs758946412
rs758946412
12 0.790 0.240 X 100407507 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1562846694
rs1562846694
32 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1131692228
rs1131692228
5 0.925 0.160 7 100646637 missense variant C/T snv 0.700 0
dbSNP: rs1060499738
rs1060499738
2 1.000 7 100647014 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1553920383
rs1553920383
3 0.925 4 101032350 frameshift variant TC/- delins 0.700 0
dbSNP: rs786203986
rs786203986
3 0.925 13 101176371 missense variant G/A;C snv 4.3E-06 0.010 1.000 1 2016 2016
dbSNP: rs1555268712
rs1555268712
3 0.882 0.160 12 101757459 coding sequence variant -/ATTTTAGAACAGTGCTTAATAGACAAAATATTGTAGAATTATAAAAAAGCCAGACCTTTGTGATTACTCTTATACTAAACAAAGGGAGTATGCGTGTACTACTTACCTATATTTGTTTTTGTCCTTATATGCTTTGTGGATTTTGTCAGTTACTGGTTTACAGTTTGTTACTAGACTTTTAGTGACCGGTGGCTATGAGAAAATATAA delins 0.700 0
dbSNP: rs1060499687
rs1060499687
3 0.882 0.160 12 101757657 splice acceptor variant GC/AT mnv 0.700 0
dbSNP: rs1060499739
rs1060499739
2 1.000 3 101757754 missense variant A/G snv 0.700 0
dbSNP: rs1057518776
rs1057518776
4 0.925 0.080 14 101986027 missense variant T/A snv 0.700 0
dbSNP: rs1064796765
rs1064796765
19 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
dbSNP: rs1567010427
rs1567010427
11 0.882 14 102010824 missense variant G/A snv 0.700 0
dbSNP: rs1057518961
rs1057518961
5 0.925 0.040 14 102012450 missense variant C/T snv 0.700 0
dbSNP: rs200345816
rs200345816
3 0.925 0.040 7 102283048 missense variant C/G;T snv 6.0E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs866294686
rs866294686
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs750371878
rs750371878
4 0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1562927768
rs1562927768
15 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
dbSNP: rs1560755661
rs1560755661
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs374319146
rs374319146
6 0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06 0.700 0
dbSNP: rs398122855
rs398122855
5 0.882 0.240 X 107642384 missense variant G/C snv 0.010 1.000 1 2012 2012
dbSNP: rs80338848
rs80338848
6 0.851 0.240 7 107675051 missense variant T/C snv 2.7E-04 3.4E-04 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 0.700 0
dbSNP: rs397514513
rs397514513
4 0.882 0.080 4 107945426 missense variant A/T snv 0.700 0