Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 5