Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555187440
KMT2D
1.000 12 49031293 frameshift variant TT/- del 2
rs747661902
PIGQ
1.000 16 578404 frameshift variant TG/- del 2.8E-05 2.1E-05 3
rs1555648564
PPM1D
1.000 17 60656807 frameshift variant TG/- del 2
rs777537805
ASXL1
1.000 20 32433740 frameshift variant TG/- delins 2
rs797044852
FKBP10
17 41821027 frameshift variant TG/- delins 1
rs1429181351
GNPTAB
0.925 0.160 12 101764957 frameshift variant TA/- del 4.0E-06 4
rs777218310
ECHS1
0.925 10 133369907 frameshift variant TA/- delins 1.6E-05 1.3E-04 4
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs386834236
GAA
0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 6
rs926748713
TRMU
1.000 22 46352140 missense variant T/G snv 4.0E-06 2.1E-05 2
rs1554603550
CHD7
8 60850514 missense variant T/G snv 1
rs1555543296
MYO15A ; LOC105371566
17 18135775 missense variant T/G snv 1
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv 18
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1026300967
NTRK1
1.000 1 156868246 missense variant T/C snv 2
rs1555447237
NR2F2
1.000 15 96334573 missense variant T/C snv 2
rs368934219
AARS2 ; TMEM151B
1.000 6 44303177 splice acceptor variant T/C snv 1.6E-05 1.4E-05 2
rs397517172
SOS1
0.925 0.160 2 39056704 missense variant T/C snv 2
rs1555605893
SMARCE1
17 40637502 missense variant T/C snv 1
rs267607387
KRT12 ; LOC105371777
1.000 0.080 17 40866802 missense variant T/C snv 1
rs1377989582
CHD4
1.000 12 6587756 missense variant T/A;G snv 2
rs121909574
TFAP2A-AS2 ; TFAP2A
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 17
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs138632121
THOC6 ; HCFC1R1
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 13
rs1555977248
CASK
1.000 X 41542781 stop gained T/A snv 3