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: rs1553414029
rs1553414029
1 1.000 0.160 2 47800675 frameshift variant CC/- del 0.700 0
dbSNP: rs1553414239
rs1553414239
2 0.925 0.160 2 47800856 frameshift variant AG/- del 0.700 0
dbSNP: rs1553414395
rs1553414395
3 0.925 0.160 2 47801001 stop gained C/A;G;T snv 0.700 0
dbSNP: rs267608041
rs267608041
3 1.000 0.160 2 47798718 frameshift variant A/-;AA delins 7.0E-06 0.700 0
dbSNP: rs267608064
rs267608064
4 0.925 0.160 2 47799614 frameshift variant AAAA/-;AA delins 0.700 0
dbSNP: rs267608066
rs267608066
2 0.925 0.160 2 47798713 stop gained C/G;T snv 0.700 0
dbSNP: rs267608077
rs267608077
4 0.925 0.160 2 47799112 frameshift variant AGAGA/- delins 0.700 0
dbSNP: rs267608092
rs267608092
4 0.925 0.160 2 47803553 frameshift variant TT/-;T;TTT delins 0.700 0
dbSNP: rs3211299
rs3211299
3 0.882 0.200 2 47791097 missense variant G/T snv 9.4E-04 1.5E-03 0.700 0
dbSNP: rs61754783
rs61754783
1 1.000 0.160 2 47799457 missense variant A/G snv 8.0E-05 7.7E-05 0.700 0
dbSNP: rs63749843
rs63749843
7 0.827 0.240 2 47803449 stop gained C/A;G;T snv 0.700 0
dbSNP: rs63749874
rs63749874
4 0.925 0.160 2 47799616 frameshift variant AAGA/- delins 0.700 0
dbSNP: rs63749999
rs63749999
6 0.851 0.240 2 47801086 stop gained C/T snv 1.2E-05 0.700 0
dbSNP: rs63750139
rs63750139
2 0.925 0.160 2 47806488 stop gained C/T snv 0.700 0
dbSNP: rs63750563
rs63750563
4 0.925 0.160 2 47800996 stop gained C/A;T snv 4.8E-06 0.700 0
dbSNP: rs63750617
rs63750617
6 0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05 0.700 0
dbSNP: rs63750735
rs63750735
3 0.925 0.160 2 47799789 frameshift variant AAAG/- del 0.700 0
dbSNP: rs63750897
rs63750897
1 1.000 0.160 2 47799491 missense variant C/G;T snv 6.2E-04 5.7E-04 0.700 0
dbSNP: rs63750955
rs63750955
4 0.925 0.160 2 47798633 frameshift variant -/T delins 1.4E-05 0.700 0
dbSNP: rs63750998
rs63750998
2 0.925 0.160 2 47803506 missense variant C/A;G;T snv 9.5E-05; 7.2E-05; 1.1E-04 0.700 0
dbSNP: rs63751234
rs63751234
1 1.000 0.160 2 47799585 frameshift variant C/- del 0.700 0
dbSNP: rs63751328
rs63751328
2 1.000 0.160 2 47805638 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs63751407
rs63751407
2 0.925 0.160 2 47801034 frameshift variant TC/- delins 0.700 0
dbSNP: rs777159874
rs777159874
2 1.000 0.160 2 47799853 frameshift variant G/- delins 0.700 0
dbSNP: rs786201084
rs786201084
3 1.000 0.160 2 47806300 frameshift variant -/T ins 0.700 0