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: rs1057516128
rs1057516128
1 1.000 0.080 19 11113584 missense variant A/G snv 0.700 0
dbSNP: rs1057519667
rs1057519667
4 0.851 0.120 19 11113277 splice acceptor variant G/- delins 0.700 0
dbSNP: rs1057519668
rs1057519668
1 1.000 0.080 19 11113296 missense variant T/C snv 0.700 0
dbSNP: rs1057519669
rs1057519669
4 0.925 0.080 19 11113347 missense variant A/G snv 0.700 0
dbSNP: rs1057519670
rs1057519670
4 0.925 0.080 19 11113406 missense variant A/T snv 0.700 0
dbSNP: rs1057519671
rs1057519671
1 1.000 0.080 19 11113421 frameshift variant T/- del 0.700 0
dbSNP: rs1057519672
rs1057519672
1 1.000 0.080 19 11113654 frameshift variant C/- del 0.700 0
dbSNP: rs1057519673
rs1057519673
4 0.925 0.080 19 11113705 frameshift variant C/- del 0.700 0
dbSNP: rs1057519674
rs1057519674
1 1.000 0.080 19 11113746 frameshift variant TG/- delins 0.700 0
dbSNP: rs1060499921
rs1060499921
3 0.925 0.120 19 11111630 missense variant A/C snv 0.700 0
dbSNP: rs1060499922
rs1060499922
2 1.000 0.080 19 11111635 frameshift variant TG/- delins 0.700 0
dbSNP: rs1060499923
rs1060499923
3 0.925 0.120 19 11113295 frameshift variant TT/- del 0.700 0
dbSNP: rs1060499924
rs1060499924
2 1.000 0.080 19 11113454 splice region variant G/T snv 0.700 0
dbSNP: rs113669610
rs113669610
2 0.925 0.080 19 11111557 stop gained C/A;T snv 2.8E-05 0.700 0
dbSNP: rs137943601
rs137943601
6 0.851 0.120 19 11113313 missense variant G/A;C snv 8.0E-06 0.800 0
dbSNP: rs138315511
rs138315511
2 0.925 0.080 19 11111538 missense variant A/C;T snv 8.8E-05; 8.0E-06 0.700 0
dbSNP: rs139617694
rs139617694
6 0.851 0.080 19 11113534 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs1555804717
rs1555804717
4 0.882 0.120 19 11111523 frameshift variant A/- del 0.700 0
dbSNP: rs1555805127
rs1555805127
3 0.925 0.120 19 11113262 coding sequence variant -/GGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCC delins 0.700 0
dbSNP: rs193922567
rs193922567
7 0.807 0.120 19 11113451 splice donor variant T/A;C snv 0.700 0
dbSNP: rs368562025
rs368562025
3 0.925 0.080 19 11113329 missense variant C/T snv 2.8E-05 7.0E-06 0.700 0
dbSNP: rs370777955
rs370777955
3 0.882 0.080 19 11113643 stop gained C/A;G snv 4.0E-06 0.700 0
dbSNP: rs552422789
rs552422789
4 0.925 0.080 19 11113308 missense variant G/A;C snv 1.6E-05 0.700 0
dbSNP: rs5933
rs5933
4 0.925 0.080 19 11113414 missense variant C/G;T snv 3.2E-04 0.700 0
dbSNP: rs730880130
rs730880130
2 0.925 0.080 19 11113644 missense variant T/C;G snv 0.700 0