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: rs1567541975
rs1567541975
1 1.000 0.120 17 7670664 stop gained C/A snv 0.700 0
dbSNP: rs1567542019
rs1567542019
1 1.000 0.120 17 7670673 stop gained C/A snv 0.700 0
dbSNP: rs1567542031
rs1567542031
1 1.000 0.120 17 7670673 frameshift variant C/- del 0.700 0
dbSNP: rs1567542043
rs1567542043
1 1.000 0.120 17 7670675 frameshift variant TCAGCTCT/- delins 0.700 0
dbSNP: rs375338359
rs375338359
4 0.882 0.200 17 7670684 missense variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs1131691022
rs1131691022
6 0.827 0.160 17 7670685 frameshift variant GG/A;G delins 0.700 0
dbSNP: rs730882029
rs730882029
4 0.882 0.200 17 7670685 stop gained G/A snv 0.700 0
dbSNP: rs1567542146
rs1567542146
1 1.000 0.120 17 7670694 frameshift variant -/A ins 0.700 0
dbSNP: rs121912664
rs121912664
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs587782529
rs587782529
8 0.851 0.200 17 7670700 missense variant G/A;C snv 0.700 0
dbSNP: rs1567542245
rs1567542245
1 1.000 0.120 17 7670706 splice acceptor variant CCCACGGATCTGCAGCAACAGAGGAGGGGGAG/- delins 0.700 0
dbSNP: rs1567542299
rs1567542299
1 1.000 0.120 17 7670712 frameshift variant GG/- del 0.700 0
dbSNP: rs11575997
rs11575997
2 0.925 0.200 17 7673534 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs876659384
rs876659384
7 0.851 0.240 17 7673552 stop gained C/A snv 0.700 0
dbSNP: rs1567546196
rs1567546196
2 0.925 0.200 17 7673579 frameshift variant G/- delins 0.700 0
dbSNP: rs1567546226
rs1567546226
1 1.000 0.120 17 7673582 frameshift variant AGAGGAGCTG/- delins 0.700 0
dbSNP: rs1567546373
rs1567546373
1 1.000 0.120 17 7673595 frameshift variant G/- del 0.700 0
dbSNP: rs587781702
rs587781702
3 0.925 0.200 17 7673609 splice acceptor variant C/A;G;T snv 0.700 0
dbSNP: rs397516439
rs397516439
3 0.925 0.200 17 7673610 splice acceptor variant T/C snv 8.0E-06 0.700 0
dbSNP: rs1131691039
rs1131691039
5 0.851 0.240 17 7673700 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs121913344
rs121913344
5 0.925 0.200 17 7673704 stop gained G/A;T snv 0.700 0
dbSNP: rs1567546889
rs1567546889
1 1.000 0.120 17 7673711 frameshift variant -/CCCC delins 0.700 0
dbSNP: rs1567547030
rs1567547030
1 1.000 0.120 17 7673728 frameshift variant CGTGG/- del 0.700 0
dbSNP: rs201744589
rs201744589
6 0.882 0.240 17 7673728 stop gained C/A;G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs1567547066
rs1567547066
1 1.000 0.120 17 7673731 inframe deletion GAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGT/- delins 0.700 0