Disease: Feeding difficulties
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs1555257073
POMP
0.827 0.120 13 28672407 frameshift variant AT/- delins 25
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 13
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9
rs772037717
FBXL4
0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 8
rs724159948
DYRK1A ; LOC105372797
1.000 21 37490273 stop gained C/T snv 7
rs724159953
DYRK1A
1.000 21 37505352 stop gained C/T snv 7
rs724159951
DYRK1A
21 37493101 missense variant T/C snv 6
rs724159952
LOC105372797 ; DYRK1A
21 37490451 frameshift variant -/G delins 6
rs724159954
DYRK1A ; LOC105372797
21 37490353 frameshift variant -/A delins 6
rs724159956
DYRK1A
21 37496249 frameshift variant -/G delins 6
rs527624522
EXT2
0.925 0.080 11 44107723 missense variant C/T snv 6.4E-05 2.1E-05 5