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: rs1043618
rs1043618
10 0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06 0.700 0
dbSNP: rs1061581
rs1061581
6 0.827 0.200 6 31816809 synonymous variant G/A snv 0.700 0
dbSNP: rs113993959
rs113993959
25 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
dbSNP: rs121912713
rs121912713
5 0.851 0.200 14 94378561 missense variant A/C snv 0.700 0
dbSNP: rs1457464431
rs1457464431
3 0.882 0.160 14 94383069 missense variant A/G snv 0.700 0
dbSNP: rs1555367891
rs1555367891
3 0.882 0.160 14 94378633 missense variant T/C snv 0.700 0
dbSNP: rs1555367892
rs1555367892
3 0.882 0.160 14 94378633 frameshift variant TG/- del 0.700 0
dbSNP: rs1555367896
rs1555367896
3 0.882 0.160 14 94378640 splice donor variant GGAGGGGAGAGAAGCAGAGACACGTTGTAAGGCTGATCCCAGGCCTCGAGCAAGGCTCACGTGGACACCTCCCAGGAAGCGCTCACTCCCCCTGGACGGCCCTGGCCCTGCACATCCTCTCCCTCCCTGTCACATAGGCCTTGCTCCTCCTCAAGGCTTTGGCTGATGGGGCTGGCTCCCCTCTGTCCATCTTCCTGACAAGCGCCTCTCCCCCTGCTCAGGTGCACCCACAACTCAGAACAGGGAAGAGCATCGTCACTCCACGTCTGCCTCCAGGGCTCTCTCCTTTCTAGTACACGGCTTGAAGCTCCTTGAGGACACGGACCCTGGCAGTGACCTTCACAGTGCCCAGACCCCAAGATAATGCAGCCATTCATGGAACTGCAGTTGTTCATTGGTCGCCTTTAGTTTTCCAAAATAAGTGTCATCTTTAGCTGAAATCATTCATTAATTCAGACACCAAATCTCACAGATCGAAGGAGTCAGAAATTCCTTTGAAACAACTTAGCCCAAACCTTTCTGTGTCAGTATGGATAAATCAAGGCCCAATGTCTAGAAGGTCTTGGGCAAAGTTGAAATTCAGGGTCAGTGACACAACCTCAAGGGAGGCCCCGAAAGTGCCAGCTGCACAGCAGTCCCCTGCCTGGCTTTGCTGTTTGACCACGTCCCGTGTCAGTGAATCACGGGCATCTTCAGGAGCTCAGCCTGGGTCTTCATTTGTTTCCCTCGGCCCCTTCCTCAGCCTCAGGACAGAGCTGCAGCCCCCACACATTCTTCCCTACAGATACCAGGGTGCAACAAGGTCGTCAGGGTGATCTCACCT/- delins 0.700 0
dbSNP: rs1555369172
rs1555369172
3 0.882 0.160 14 94383011 missense variant A/G snv 0.700 0
dbSNP: rs1555369299
rs1555369299
3 0.882 0.160 14 94383237 start lost T/- delins 0.700 0
dbSNP: rs1567608853
rs1567608853
6 0.925 0.160 16 88646212 non coding transcript exon variant G/C snv 0.700 0
dbSNP: rs199422209
rs199422209
4 0.882 0.160 14 94378528 missense variant G/A;C;T snv 4.8E-05; 1.2E-05; 3.2E-05 0.700 0
dbSNP: rs199422211
rs199422211
3 0.882 0.160 14 94381067 stop gained T/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs2227956
rs2227956
12 0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87 0.700 0
dbSNP: rs267606950
rs267606950
3 0.882 0.160 14 94382686 frameshift variant G/- del 1.4E-05 0.700 0
dbSNP: rs2763979
rs2763979
5 0.827 0.360 6 31826815 upstream gene variant C/T snv 0.45 0.700 0
dbSNP: rs562047
rs562047
3 0.882 0.080 6 31816086 missense variant G/C snv 0.16 0.700 0
dbSNP: rs6457452
rs6457452
4 0.851 0.200 6 31827773 5 prime UTR variant C/G;T snv 8.5E-05; 9.3E-02; 1.4E-05 0.700 0
dbSNP: rs74597325
rs74597325
18 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
dbSNP: rs751235320
rs751235320
3 0.882 0.160 14 94382591 splice donor variant C/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs756773408
rs756773408
3 0.882 0.160 14 94382592 missense variant C/A snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs764325655
rs764325655
3 0.882 0.160 14 94378548 frameshift variant G/-;GG delins 4.2E-05 0.700 0
dbSNP: rs10928927
rs10928927
1 1.000 0.040 2 129710793 intergenic variant C/T snv 0.70 0.800 1.000 1 2011 2011
dbSNP: rs114216682
rs114216682
1 1.000 0.040 1 53405413 intergenic variant G/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs117607728
rs117607728
1 1.000 0.040 10 94298879 intron variant G/A;T snv 0.800 1.000 1 2011 2011