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: rs121912578
rs121912578
1 1.000 0.120 18 51078285 missense variant G/C snv 0.800 0
dbSNP: rs104894360
rs104894360
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.700 0
dbSNP: rs1131691003
rs1131691003
12 0.752 0.360 17 7676381 splice donor variant C/A;G snv 0.700 0
dbSNP: rs1131691042
rs1131691042
12 0.752 0.360 17 7675052 splice donor variant C/T snv 0.700 0
dbSNP: rs11540652
rs11540652
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs121912576
rs121912576
1 1.000 0.120 18 51065539 stop gained G/T snv 0.700 0
dbSNP: rs121912577
rs121912577
2 0.925 0.160 18 51067115 stop gained C/G;T snv 8.0E-06 0.700 0
dbSNP: rs121912579
rs121912579
1 1.000 0.120 18 51078351 stop gained A/T snv 0.700 0
dbSNP: rs121912661
rs121912661
1 1.000 0.120 17 7676264 missense variant C/A;G snv 0.700 0
dbSNP: rs137853079
rs137853079
2 1.000 0.120 19 1207021 stop gained C/A;G;T snv 1.6E-05 0.700 0
dbSNP: rs1555162597
rs1555162597
1 1.000 0.120 12 51991357 splice acceptor variant ATGAAAAAAAATGTTCCTGGCTACTCTTTTGTATTTCTTTTTGTTTAGTTGTTTTGTTTGAGACAGAGTCTTGCACTCTTGTCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAACCTCTGCCTCCAGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGTGTTTGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCGTGTTGGCGGGGCTGGTTTCAAACTACTGATCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCCCTTTTGTGTATTTCTTGTTCCATACTTAGAATTAACTAACTTTCTAAGGAACCTTAGGGGGTAGTGGTATTTACAGAGCACAGTGTAGGTTTTGTCACCGGCTTCTGAGTAATCTTTTCCTGCTGTTGATAACTCAGGTAGATACTTTCTTTTCTCCCAGGAGTCCATGAAGAATATCAGCTGCCATATTACGACTTAGTGCCCTCTGACCCTTCCATTGAGGAAATGCGAAAGGTTGTATGTGATCAGAAGCTGCGTCCCAACATCCCCAACTGGTGGCAGAGTTATGAGGTAAGAAGCTGGCCTCCTGCGGCT/- delins 0.700 0
dbSNP: rs200027650
rs200027650
1 1.000 0.120 12 109904025 missense variant G/A snv 2.5E-04 1.4E-04 0.700 0
dbSNP: rs281875322
rs281875322
6 0.807 0.480 18 51078306 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs372266620
rs372266620
2 0.925 0.120 9 21971189 missense variant G/A;C;T snv 9.1E-05; 2.3E-05; 9.1E-06 0.700 0
dbSNP: rs377767347
rs377767347
14 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 0
dbSNP: rs387906389
rs387906389
1 1.000 0.120 12 51986840 frameshift variant GATGA/- del 0.700 0
dbSNP: rs397518442
rs397518442
1 1.000 0.120 19 1220630 frameshift variant C/- delins 0.700 0
dbSNP: rs397518443
rs397518443
2 0.925 0.200 19 1222998 frameshift variant AA/-;A delins 0.700 0
dbSNP: rs55832599
rs55832599
18 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
dbSNP: rs730881976
rs730881976
4 0.882 0.240 19 1220702 stop gained C/A;G snv 0.700 0
dbSNP: rs80338965
rs80338965
5 0.851 0.480 18 51067121 frameshift variant CAGA/- delins 0.700 0
dbSNP: rs11141915
rs11141915
3 0.882 0.160 9 87620879 intron variant A/C snv 0.25 0.800 1.000 1 2012 2012
dbSNP: rs13303010
rs13303010
2 0.925 0.120 1 959193 intron variant G/A snv 0.82 0.69 0.710 < 0.001 1 2018 2018