Disease: Developmental regression
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
rs1057519465
HEXA
0.925 0.160 15 72346598 stop gained C/T snv 4.0E-06 7
rs1057519467
HEXA
0.925 0.160 15 72345540 missense variant C/T snv 5
rs1057519468
HEXA
0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06 6
rs1057519565
DEAF1
0.851 0.200 11 687941 missense variant C/T snv 9
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv 33
rs121907966
HEXA
0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 9
rs121907978
HEXA
0.925 0.160 15 72346296 missense variant C/G;T snv 7
rs1564855725
TPP1
0.882 0.160 11 6617621 splice region variant C/T snv 5
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 40
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 29
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 14
rs370266293
HEXA
0.925 0.160 15 72346679 missense variant C/G;T snv 1.0E-04 5
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 20
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 22
rs553522118
TPP1
0.882 0.160 11 6617338 stop gained G/A;T snv 5
rs61749715
MECP2
0.851 0.120 X 154031154 missense variant G/A;C snv 8
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs762374961
HEXA
0.925 0.160 15 72346235 stop gained C/A;T snv 4
rs773446161
HEXA
0.925 0.160 15 72356555 stop gained G/A snv 4.0E-06 7
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 22
rs864309505
TPP1
0.807 0.200 11 6615220 missense variant T/G snv 10
rs869312825
GNB1
0.827 0.120 1 1804548 start lost T/C snv 11