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
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
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
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
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
rs863225422
RNU4ATAC ; CLASP1 ; LOC107985942
0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 23
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv 19
rs771409809
WFS1
0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 19
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 13
rs1085307138
PUF60 ; SCRIB
0.807 0.160 8 143817591 splice donor variant C/T snv 9
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
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv 7
rs1085307132
SCRIB ; PUF60
0.882 0.160 8 143817668 frameshift variant -/TTTT delins 5
rs1085307139
SCRIB ; PUF60
0.925 0.040 8 143817380 frameshift variant -/C delins 5
rs1114167294
FOXP4
0.925 6 41587455 frameshift variant T/- del 4