Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518776
DYNC1H1
0.925 0.080 14 101986027 missense variant T/A snv 4
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1114167292
RUBCN
0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05 6
rs1114167295
MAGED2
0.827 0.160 X 54812169 frameshift variant C/- del 6
rs1114167296
TMEM47
0.827 0.160 X 34656995 missense variant C/G snv 6
rs1114167298
GRM7
0.882 0.120 3 6861849 missense variant T/C snv 7.0E-06 5
rs1114167300
GRM7
0.925 0.040 3 7578878 missense variant C/T snv 6
rs1114167301
GRM7
0.925 0.040 3 7578930 missense variant C/A;T snv 4.0E-06 6
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 9
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 17
rs138632121
THOC6 ; HCFC1R1
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 13
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11
rs1554121872
CAMK2A
0.882 0.040 5 150250270 missense variant T/G snv 7
rs1554122526
CAMK2A
0.882 0.040 5 150256811 missense variant A/G snv 9
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1554385305
CAMK2B
0.925 0.040 7 44241784 splice acceptor variant C/T snv 7
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs1554863016
KIF11
0.882 0.240 10 92648211 splice acceptor variant G/A snv 5