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: rs1057517983
rs1057517983
1 1.000 0.120 17 7674232 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1057523347
rs1057523347
2 0.925 0.160 17 7673789 stop gained A/G;T snv 0.700 0
dbSNP: rs1060501194
rs1060501194
1 1.000 0.120 17 7673830 frameshift variant G/- del 0.700 0
dbSNP: rs1060501197
rs1060501197
1 1.000 0.120 17 7674247 frameshift variant T/- delins 0.700 0
dbSNP: rs1060501207
rs1060501207
1 1.000 0.120 17 7673839 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1060501212
rs1060501212
1 1.000 0.120 17 7674973 splice acceptor variant TAA/- del 0.700 0
dbSNP: rs1064792930
rs1064792930
1 1.000 0.120 17 7675152 frameshift variant CGGGCGGGGGTGT/- del 0.700 0
dbSNP: rs1064794309
rs1064794309
1 1.000 0.120 17 7674197 inframe deletion ATG/- delins 0.700 0
dbSNP: rs1131691039
rs1131691039
5 0.851 0.240 17 7673700 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs1131691043
rs1131691043
2 1.000 0.120 17 7675098 missense variant C/A snv 0.700 0
dbSNP: rs121908707
rs121908707
3 0.925 0.160 22 28695709 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs1555523630
rs1555523630
1 1.000 0.120 17 7668202 intron variant -/C delins 0.700 0
dbSNP: rs1555524949
rs1555524949
1 1.000 0.120 17 7673535 frameshift variant CTGA/- del 0.700 0
dbSNP: rs1555525140
rs1555525140
1 1.000 0.120 17 7673749 frameshift variant -/G delins 0.700 0
dbSNP: rs1555525170
rs1555525170
1 1.000 0.120 17 7673763 frameshift variant TCCTCTGTGC/- del 0.700 0
dbSNP: rs1555525209
rs1555525209
1 1.000 0.120 17 7673773 frameshift variant GCCG/CT delins 0.700 0
dbSNP: rs1555525498
rs1555525498
1 1.000 0.120 17 7674221 missense variant GG/AA mnv 0.700 0
dbSNP: rs1555525518
rs1555525518
1 1.000 0.120 17 7674239 frameshift variant GGAACTGTTA/- delins 0.700 0
dbSNP: rs1555525585
rs1555525585
2 0.925 0.200 17 7674292 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1555525957
rs1555525957
1 1.000 0.120 17 7675048 splice region variant CATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCAC/- delins 0.700 0
dbSNP: rs1555526097
rs1555526097
2 0.925 0.120 17 7675113 stop gained G/A snv 0.700 0
dbSNP: rs1555526478
rs1555526478
1 1.000 0.120 17 7675997 stop gained G/T snv 0.700 0
dbSNP: rs1555526495
rs1555526495
1 1.000 0.120 17 7676004 frameshift variant -/TTGGCTGTCCCAGAATGCAAGAAGCCCAGAC delins 0.700 0
dbSNP: rs1555526593
rs1555526593
1 1.000 0.120 17 7676074 frameshift variant A/- delins 0.700 0
dbSNP: rs1555526748
rs1555526748
1 1.000 0.120 17 7676212 frameshift variant -/T delins 0.700 0