Disease: Developmental regression
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 15
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
rs397507478
BRAF
0.790 0.440 7 140777014 missense variant C/A snv 12
rs869312825
GNB1
0.827 0.120 1 1804548 start lost T/C snv 11
rs587777446
IFIH1
0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06 10
rs1057519565
DEAF1
0.851 0.200 11 687941 missense variant C/T snv 9