Disease: Muscle hypotonia
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 36
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 13
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 13
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv 12
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs188675529
CENPT ; THAP11
0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 11
rs869312825
GNB1
0.827 0.120 1 1804548 start lost T/C snv 11
rs1555883505
EEF1A2
0.827 0.160 20 63490712 missense variant G/A snv 10
rs1567941252
PCGF2
0.807 0.240 17 38739601 missense variant G/A snv 10
rs768933093
BBS10
0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 10
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 9