Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs63750349 0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06 5
rs796051870 0.851 0.200 5 179833783 splice donor variant G/A snv 4.0E-06 7.0E-06 4
rs121908627
CLTA ; GNE
0.925 0.160 9 36217448 missense variant C/A;T snv 8.9E-04; 1.7E-03 3
rs533610448 0.882 0.240 17 45983334 missense variant A/T snv 9.8E-05 6.3E-05 3
rs75789129 0.925 0.160 7 117587820 missense variant A/G snv 3.5E-03 1.2E-03 2
rs199877522
CLTA ; GNE
0.925 0.160 9 36227397 missense variant C/A;T snv 1.6E-04; 1.2E-05 2
rs62541771
CLTA ; GNE
0.925 0.160 9 36218224 missense variant G/A snv 8.7E-05 1.0E-04 2
rs748949603
CLTA ; GNE
0.925 0.160 9 36219894 missense variant A/G snv 4.0E-06 2.8E-05 2
rs757523840
CLTA ; GNE
0.925 0.160 9 36218272 stop gained G/C snv 8.0E-06 2.8E-05 2
rs764698870
CLTA ; GNE
0.925 0.160 9 36222839 missense variant G/A;T snv 4.8E-05; 4.0E-06 2
rs28937594
GNE ; CLTA
0.925 0.160 9 36217399 missense variant A/G snv 4.0E-05 7.0E-06 2
rs773729410
GNE ; CLTA
0.925 0.160 9 36236865 missense variant G/A snv 1.2E-05 1.4E-05 2
rs779694939
GNE ; CLTA
0.925 0.160 9 36236954 missense variant A/G snv 2.4E-05 4.2E-05 2
rs886043636
GNE ; CLTA
0.925 0.160 9 36229018 splice donor variant -/A delins 2
rs886044514
GNE ; CLTA
1.000 0.120 9 36249352 stop gained C/A snv 4.0E-06 7.0E-06 2
rs200763627 0.925 0.160 9 36276927 stop gained A/G;T snv 8.1E-06; 2.0E-04 2
rs765747662 1.000 0.120 1 236757562 missense variant C/T snv 2.8E-05 2.1E-05 1
rs1057516275
CLTA ; GNE
1.000 0.120 9 36227371 frameshift variant T/- delins 1
rs1057516364
CLTA ; GNE
1.000 0.120 9 36227267 missense variant A/G snv 1
rs1057516374
CLTA ; GNE
1.000 0.120 9 36233986 stop gained G/A snv 1
rs1057516597
CLTA ; GNE
1.000 0.120 9 36223372 splice donor variant C/- delins 1
rs1057516705
CLTA ; GNE
1.000 0.120 9 36223501 splice acceptor variant C/- delins 1
rs1057516798
CLTA ; GNE
1.000 0.120 9 36222887 missense variant A/G snv 7.0E-06 1
rs1057516906
CLTA ; GNE
1.000 0.120 9 36236946 stop gained G/A snv 4.0E-06 1
rs1057516915
CLTA ; GNE
1.000 0.120 9 36246209 frameshift variant TAGA/- delins 1