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: rs121912665
rs121912665
7 1.000 0.120 17 7674965 missense variant G/A snv 2.4E-05 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2287497
rs2287497
3 0.882 0.120 17 7689462 intron variant G/A snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs2287498
rs2287498
4 0.882 0.120 17 7689242 synonymous variant C/T snv 0.13 0.14 0.010 1.000 1 2013 2013
dbSNP: rs1064793881
rs1064793881
3 0.925 0.120 17 7673784 missense variant C/T snv 0.700 0
dbSNP: rs1064796722
rs1064796722
1 1.000 0.120 17 7676043 missense variant A/C;G snv 0.700 0
dbSNP: rs1195793509
rs1195793509
1 1.000 0.120 17 7676210 stop gained -/CATT delins 0.700 0
dbSNP: rs1202793339
rs1202793339
1 1.000 0.120 17 7674972 splice acceptor variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1212996409
rs1212996409
1 1.000 0.120 17 7675197 stop gained T/A;C snv 0.700 0
dbSNP: rs1267047192
rs1267047192
1 1.000 0.120 17 7675997 frameshift variant -/C delins 0.700 0
dbSNP: rs1555525279
rs1555525279
2 1.000 0.120 17 7673795 missense variant A/C snv 0.700 0
dbSNP: rs1555525970
rs1555525970
1 1.000 0.120 17 7675064 stop gained G/A;C snv 0.700 0
dbSNP: rs1555526101
rs1555526101
1 1.000 0.120 17 7675115 stop gained G/A;C snv 0.700 0
dbSNP: rs1555526466
rs1555526466
1 1.000 0.120 17 7675989 splice region variant C/A;G;T snv 0.700 0
dbSNP: rs1555526721
rs1555526721
1 1.000 0.120 17 7676176 stop gained T/A;G snv 0.700 0
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: rs1567542146
rs1567542146
1 1.000 0.120 17 7670694 frameshift variant -/A ins 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: 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: 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