Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs148000791
AHI1
0.925 0.120 6 135323233 missense variant T/C snv 3.8E-03 1.2E-03 1
rs376823382
LOC107984363 ; TYR
0.827 0.200 11 89284940 missense variant A/G snv 1.9E-04 2.2E-04 8
rs148677674
LZTR1
0.882 0.160 22 20994988 missense variant C/A;T snv 2.4E-05; 1.6E-04 3
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs185476065
MIR6890 ; QARS1
0.882 0.160 3 49100222 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 11
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 18
rs139751598
PYCR1
0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 13
rs752134549
RSRC2
0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 6
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs730882198
SPART
0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 6
rs782393002
HUWE1
0.882 0.280 X 53549413 missense variant A/C;G snv 1.1E-05 6
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 20
rs376754460
PMM2
0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 12
rs587777449
IFIH1
0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06 6
rs121909574
TFAP2A-AS2 ; TFAP2A
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 17
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 11
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs28940877
LOC107984363 ; TYR
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05 9
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1172486173
MIR6890 ; QARS1
0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 11
rs121908595
MAP2K1
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 8
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35