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: rs193922578
rs193922578
1 1.000 0.080 12 120978894 frameshift variant C/- delins 0.700 0
dbSNP: rs193922580
rs193922580
1 1.000 0.080 12 120997588 missense variant C/A;T snv 1.2E-05; 5.2E-05 0.700 0
dbSNP: rs193922582
rs193922582
1 1.000 0.080 12 120999269 frameshift variant -/CT delins 0.700 0
dbSNP: rs193922587
rs193922587
2 0.925 0.160 12 120999522 missense variant C/T snv 8.1E-06 0.700 0
dbSNP: rs193922588
rs193922588
1 1.000 0.080 12 120978937 frameshift variant C/- del 0.700 0
dbSNP: rs193922589
rs193922589
1 1.000 0.080 12 120999604 missense variant A/G snv 5.4E-05 2.1E-05 0.700 0
dbSNP: rs193922592
rs193922592
1 1.000 0.080 12 120978769 start lost A/G;T snv 0.700 0
dbSNP: rs193922593
rs193922593
1 1.000 0.080 12 120979049 missense variant C/T snv 0.700 0
dbSNP: rs193922594
rs193922594
1 1.000 0.080 12 120979079 frameshift variant -/G delins 0.700 0
dbSNP: rs193922596
rs193922596
1 1.000 0.080 12 120988874 protein altering variant -/GCA delins 0.700 0
dbSNP: rs193922597
rs193922597
1 1.000 0.080 12 120988947 missense variant C/A snv 0.700 0
dbSNP: rs193922598
rs193922598
1 1.000 0.080 12 120993591 missense variant C/T snv 0.700 0
dbSNP: rs193922599
rs193922599
1 1.000 0.080 12 120993655 inframe deletion GAA/- delins 0.700 0
dbSNP: rs193922600
rs193922600
2 0.925 0.080 12 120993663 missense variant C/T snv 0.700 0
dbSNP: rs193922602
rs193922602
1 1.000 0.080 12 120994181 stop gained G/T snv 0.700 0
dbSNP: rs193922603
rs193922603
1 1.000 0.080 12 120994184 missense variant G/T snv 0.700 0
dbSNP: rs193922604
rs193922604
1 1.000 0.080 12 120994240 missense variant G/T snv 0.700 0
dbSNP: rs193922605
rs193922605
1 1.000 0.080 12 120994253 missense variant T/C snv 0.700 0
dbSNP: rs193922606
rs193922606
1 1.000 0.080 12 120994322 stop gained C/A;G;T snv 2.1E-05; 2.1E-05; 4.6E-05 0.700 0
dbSNP: rs587776825
rs587776825
5 0.827 0.280 12 120994315 frameshift variant C/-;CC;CCC delins 0.700 0
dbSNP: rs754729248
rs754729248
6 0.807 0.280 12 120996568 missense variant C/A;G;T snv 2.4E-05; 1.9E-04; 3.6E-05 0.700 0
dbSNP: rs762703502
rs762703502
1 1.000 0.080 12 120994312 frameshift variant G/- delins 0.700 0
dbSNP: rs774637975
rs774637975
1 1.000 0.080 12 120978797 missense variant C/T snv 2.0E-05 2.1E-05 0.700 0