Disease: Muscle hypotonia
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519465
HEXA
0.925 0.160 15 72346598 stop gained C/T snv 4.0E-06 7
rs1057519468
HEXA
0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06 6
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
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
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 17
rs773446161
HEXA
0.925 0.160 15 72356555 stop gained G/A snv 4.0E-06 7
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
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 11
rs1057519467
HEXA
0.925 0.160 15 72345540 missense variant C/T snv 5
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
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
rs121907966
HEXA
0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 9
rs121907978
HEXA
0.925 0.160 15 72346296 missense variant C/G;T snv 7
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
rs141970897
CRAT
0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 7
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs1555883505
EEF1A2
0.827 0.160 20 63490712 missense variant G/A snv 10
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31