Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 17
rs1555928716
RPS6KA3
0.925 X 20167669 stop gained G/A snv 7
rs386834070
VPS13B
0.851 0.360 8 99134644 stop gained C/T snv 9
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv 17
rs769705065
CLUAP1
0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06 5
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 13
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
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
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
rs138632121
THOC6 ; HCFC1R1
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 13
rs1554121872
CAMK2A
0.882 0.040 5 150250270 missense variant T/G snv 7