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: rs386833707
rs386833707
1 1.000 0.120 16 28477561 frameshift variant C/- delins 0.700 0
dbSNP: rs386833708
rs386833708
1 1.000 0.120 16 28491759 start lost T/C;G snv 8.0E-06 0.700 0
dbSNP: rs386833709
rs386833709
2 0.925 0.120 16 28489298 stop gained G/A snv 1.4E-05 0.700 0
dbSNP: rs386833710
rs386833710
1 1.000 0.120 16 28489288 splice donor variant A/C snv 0.700 0
dbSNP: rs386833711
rs386833711
1 1.000 0.120 16 28489285 splice region variant C/G snv 0.700 0
dbSNP: rs386833713
rs386833713
1 1.000 0.120 16 28488620 stop gained G/A snv 0.700 0
dbSNP: rs386833715
rs386833715
1 1.000 0.120 16 28487665 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs386833716
rs386833716
1 1.000 0.120 16 28487662 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs386833717
rs386833717
2 0.925 0.160 16 28487537 splice acceptor variant G/-;GGG delins 4.0E-06 0.700 0
dbSNP: rs386833721
rs386833721
1 1.000 0.120 16 28486663 non coding transcript exon variant C/A;G;T snv 4.5E-06; 1.3E-05 0.700 0
dbSNP: rs386833722
rs386833722
1 1.000 0.120 16 28486651 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs386833723
rs386833723
1 1.000 0.120 16 28486639 missense variant C/G;T snv 4.2E-06 0.700 0
dbSNP: rs386833724
rs386833724
1 1.000 0.120 16 28486629 stop gained G/A;C snv 0.700 0
dbSNP: rs386833725
rs386833725
1 1.000 0.120 16 28486626 stop gained G/C snv 0.700 0
dbSNP: rs386833726
rs386833726
1 1.000 0.120 16 28491558 stop gained C/A;T snv 2.8E-05 0.700 0
dbSNP: rs386833732
rs386833732
2 0.925 0.120 16 28486455 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs386833733
rs386833733
1 1.000 0.120 16 28486449 missense variant C/T snv 0.700 0
dbSNP: rs386833735
rs386833735
1 1.000 0.120 16 28486438 frameshift variant C/-;CC delins 4.1E-06 0.700 0
dbSNP: rs386833736
rs386833736
2 0.925 0.120 16 28486401 frameshift variant -/A delins 1.2E-05 7.0E-06 0.700 0
dbSNP: rs386833737
rs386833737
1 1.000 0.120 16 28486393 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs386833738
rs386833738
2 0.925 0.120 16 28484003 splice region variant T/G snv 1.8E-04 2.1E-05 0.700 0
dbSNP: rs386833739
rs386833739
1 1.000 0.120 16 28482472 splice region variant C/T snv 0.700 0
dbSNP: rs386833741
rs386833741
1 1.000 0.120 16 28482309 splice donor variant CCTCGCTCCTCTTACCAGCGGTATTGC/- delins 2.1E-05 0.700 0
dbSNP: rs386833742
rs386833742
1 1.000 0.120 16 28482199 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs386833743
rs386833743
1 1.000 0.120 16 28482182 stop gained G/A snv 0.700 0