Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs104894366
KRAS
0.776 0.400 12 25245284 missense variant G/A;C snv 9
rs1057518731
SMARCD2
0.807 0.280 17 63833908 splice donor variant C/T snv 7
rs1057518733
SMARCD2
0.807 0.280 17 63837439 splice donor variant A/G snv 7
rs1057519566
MDH2
0.851 0.160 7 76063579 missense variant C/T snv 7
rs1057521737
EP300
0.827 0.240 22 41173768 missense variant T/C snv 11
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs111033212
SLC26A4
0.851 0.240 7 107689054 missense variant T/A;C snv 4.0E-06; 8.6E-04 4
rs1114167303
SON
0.925 0.120 21 33553079 frameshift variant GGTAT/- delins 3
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 62
rs1164484724
MAN1B1
0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 13
rs119103263
MFN2
0.827 0.240 1 11992659 missense variant C/T snv 17
rs121434341
CHD7
0.807 0.360 8 60855993 missense variant C/A;T snv 9
rs121912854
COL7A1
0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06 16
rs121912855
COL7A1
0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 15
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27
rs138632121
THOC6 ; HCFC1R1
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 13
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs141970897
CRAT
0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 7
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv 13
rs146539065
SEPSECS
0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11