Disease: Muscle hypotonia
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 11
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 16
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
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 17
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 9
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv 12
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12
rs188675529
CENPT ; THAP11
0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 11
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs141970897
CRAT
0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 7
rs762425351
CRAT
0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05 7
rs1555883505
EEF1A2
0.827 0.160 20 63490712 missense variant G/A snv 10
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs772037717
FBXL4
0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 8
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 8
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
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 3
rs869312821
GNB1
0.882 0.120 1 1806515 missense variant T/C snv 7
rs869312822
GNB1
0.827 0.200 1 1806514 missense variant A/C snv 7
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 13