Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554122526
CAMK2A
0.882 0.040 5 150256811 missense variant A/G snv 9
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
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
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
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs1557644984
SLC2A1
0.925 0.080 1 42927622 missense variant A/G snv 5
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv 11
rs1568303086
TCF4
0.882 0.320 18 55228877 missense variant C/A snv 5
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs200426926
THOC6 ; BICDL2
0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06 13
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs531163149
MTSS2
1.000 16 70664131 missense variant G/A;C snv 1.3E-04; 4.1E-06 4
rs587776935
AKT3
0.827 0.120 1 243505296 missense variant G/A snv 7
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 8
rs61751035
RPS6KC1
0.882 0.160 1 213242186 missense variant G/A snv 2.4E-05 1.4E-05 6
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs730882203
DMBX1
0.851 0.080 1 46510953 missense variant C/T snv 6
rs749203329
MLLT1
0.882 0.080 19 6213787 missense variant C/T snv 2.0E-05 1.4E-05 7
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs758432471
GNB1
0.925 1 1806513 missense variant C/T snv 7.0E-06 4