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: rs1013147010
rs1013147010
1 1.000 0.080 19 11105492 missense variant C/A snv 0.700 0
dbSNP: rs1057516127
rs1057516127
4 0.925 0.080 19 11123200 stop gained G/T snv 7.0E-06 0.700 0
dbSNP: rs1057516132
rs1057516132
2 0.925 0.080 19 11105245 frameshift variant TTTCG/- delins 0.700 0
dbSNP: rs1057516134
rs1057516134
2 0.925 0.080 19 11120123 frameshift variant A/- delins 0.700 0
dbSNP: rs1057516135
rs1057516135
2 0.925 0.080 19 11105372 frameshift variant A/- delins 0.700 0
dbSNP: rs1057519667
rs1057519667
4 0.851 0.120 19 11113277 splice acceptor variant G/- delins 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: rs1057519673
rs1057519673
4 0.925 0.080 19 11113705 frameshift variant C/- del 0.700 0
dbSNP: rs1057519677
rs1057519677
4 0.925 0.080 19 11120099 missense variant T/G snv 0.700 0
dbSNP: rs1060499841
rs1060499841
1 1.000 0.080 2 21043911 frameshift variant A/- del 0.700 0
dbSNP: rs1060500986
rs1060500986
3 1.000 0.080 19 11111628 missense variant G/A snv 0.700 0
dbSNP: rs1060500987
rs1060500987
1 1.000 0.080 19 11113360 frameshift variant C/- delins 0.700 0
dbSNP: rs1060500988
rs1060500988
1 1.000 0.080 19 11120383 frameshift variant T/- del 0.700 0
dbSNP: rs1064792905
rs1064792905
3 0.925 0.080 19 11105587 inframe deletion AGGAAAACTGCG/- delins 0.700 0
dbSNP: rs1131692189
rs1131692189
3 1.000 0.080 19 11100271 missense variant G/T snv 0.700 0
dbSNP: rs1131692190
rs1131692190
3 1.000 0.080 19 11100350 splice region variant G/A snv 0.700 0
dbSNP: rs1131692191
rs1131692191
3 1.000 0.080 19 11102724 frameshift variant -/CATTCTG ins 0.700 0
dbSNP: rs1131692192
rs1131692192
3 1.000 0.080 19 11105223 frameshift variant CAAGACGTGCTCCCAGGAC/- delins 0.700 0
dbSNP: rs1131692193
rs1131692193
3 1.000 0.080 19 11105424 stop gained CGAAGATGGCTCGG/- delins 0.700 0
dbSNP: rs1131692194
rs1131692194
3 1.000 0.080 19 11105434 synonymous variant C/T snv 0.700 0
dbSNP: rs1131692195
rs1131692195
3 1.000 0.080 19 11105471 frameshift variant GTGT/TG delins 0.700 0
dbSNP: rs1131692196
rs1131692196
3 1.000 0.080 19 11105519 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1131692197
rs1131692197
3 1.000 0.080 19 11105572 stop gained CAAGGACAAATCTGACGAGGAAA/- del 0.700 0
dbSNP: rs1131692198
rs1131692198
3 1.000 0.080 19 11105575 protein altering variant GGACAAATCTGACGA/AACTGCGGTAAACTGCGGTAAACT delins 0.700 0