Disease: Developmental regression
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 40
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv 33
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 29
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 22
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 22
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 20
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 14
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins 12
rs869312825
GNB1
0.827 0.120 1 1804548 start lost T/C snv 11
rs387906309
HEXA
0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 10
rs864309505
TPP1
0.807 0.200 11 6615220 missense variant T/G snv 10
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv 10
rs1057519565
DEAF1
0.851 0.200 11 687941 missense variant C/T snv 9
rs121907966
HEXA
0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 9
rs61749715
MECP2
0.851 0.120 X 154031154 missense variant G/A;C snv 8
rs1057519465
HEXA
0.925 0.160 15 72346598 stop gained C/T snv 4.0E-06 7
rs1057519466
HEXA
0.925 0.160 15 72346307 frameshift variant G/- del 7
rs121907978
HEXA
0.925 0.160 15 72346296 missense variant C/G;T snv 7
rs773446161
HEXA
0.925 0.160 15 72356555 stop gained G/A snv 4.0E-06 7