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: rs28934906
rs28934906
46 0.716 0.320 X 154031355 missense variant G/A snv 0.710 1.000 7 2000 2019
dbSNP: rs1569548274
rs1569548274
43 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 0.700 0
dbSNP: rs28934907
rs28934907
30 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
dbSNP: rs28935468
rs28935468
17 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
dbSNP: rs61749715
rs61749715
8 0.851 0.120 X 154031154 missense variant G/A;C snv 0.700 0
dbSNP: rs61750240
rs61750240
19 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 0
dbSNP: rs56268439
rs56268439
2 1.000 0.080 X 154030639 stop gained C/A;T snv 5.8E-06; 5.8E-06; 2.2E-03 0.010 1.000 1 2002 2002
dbSNP: rs61748389
rs61748389
2 1.000 0.080 X 154031430 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs61748421
rs61748421
9 0.807 0.200 X 154031326 stop gained G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs61749738
rs61749738
2 1.000 0.080 X 154031145 missense variant G/C snv 7.4E-04 2.9E-03 0.010 1.000 1 2017 2017
dbSNP: rs61752371
rs61752371
1 X 154030753 missense variant A/G snv 8.3E-05 4.8E-05 0.010 1.000 1 2002 2002