Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 24
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 1
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 62
rs113994094
POLG
0.827 0.080 15 89330184 missense variant G/A snv 1.5E-03 1.6E-03 6
rs113994096
POLG
0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 7
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 5
rs113994152
TSEN54
0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 9
rs111033212
SLC26A4
0.851 0.240 7 107689054 missense variant T/A;C snv 4.0E-06; 8.6E-04 4
rs150726175
NMNAT1
0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 9
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 21
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 23
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 19
rs80338848
SLC26A4
0.851 0.240 7 107675051 missense variant T/C snv 2.7E-04 3.4E-04 4
rs772887102
RARS2
0.807 0.200 6 87548623 missense variant A/C snv 2.2E-04 2.8E-05 9
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 12
rs535661345
COL6A3
0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-05 3
rs200426926
THOC6 ; BICDL2
0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06 13
rs138632121
THOC6 ; HCFC1R1
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 13
rs376103091
EARS2
0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 10
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs113994098
POLG
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 9
rs150712932
PTPN23
0.925 0.040 3 47408451 missense variant C/T snv 1.4E-04 1.6E-04 2
rs756421370
MECR
0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 8