Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs869312822
GNB1
0.827 0.200 1 1806514 missense variant A/C snv 8
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1554122526
CAMK2A
0.882 0.040 5 150256811 missense variant A/G snv 9
rs1557644984
SLC2A1
0.925 0.080 1 42927622 missense variant A/G snv 5
rs1560212751
DOCK3
1.000 3 51208772 splice acceptor variant A/G snv 2
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs772037717
FBXL4
0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 8
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs1560414254
DOCK3
1.000 3 51312486 frameshift variant ACTT/- delins 2
rs1114167295
MAGED2
0.827 0.160 X 54812169 frameshift variant C/- del 6
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 17
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs1568303086
TCF4
0.882 0.320 18 55228877 missense variant C/A snv 5
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1114167301
GRM7
0.925 0.040 3 7578930 missense variant C/A;T snv 4.0E-06 6
rs374319146
TBCK
0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06 6
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv 15
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs1114167296
TMEM47
0.827 0.160 X 34656995 missense variant C/G snv 6