Disease: Muscle hypotonia
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs749205120
KCNQ3
1.000 0.080 8 132180245 missense variant C/A;T snv 4.0E-06 3
rs1554121872
CAMK2A
0.882 0.040 5 150250270 missense variant T/G snv 7
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv 12
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 9
rs1554122526
CAMK2A
0.882 0.040 5 150256811 missense variant A/G snv 9
rs782596945
ATP2B3
0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06 8
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv 5
rs869312826
GNB1
0.882 0.080 1 1787378 missense variant C/T snv 5
rs869312825
GNB1
0.827 0.120 1 1804548 start lost T/C snv 11
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 13
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs869312821
GNB1
0.882 0.120 1 1806515 missense variant T/C snv 7
rs767982852
RUBCN
0.882 0.080 3 197694417 missense variant T/C snv 8.0E-06 4.9E-05 6
rs1114167292
RUBCN
0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05 6
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs587779767
AHDC1
0.851 0.200 1 27549218 frameshift variant G/- delins 7
rs587779768
AHDC1
0.851 0.200 1 27549569 frameshift variant G/- delins 7
rs587779766
AHDC1
0.851 0.200 1 27549742 frameshift variant CA/- delins 7
rs1567941252
PCGF2
0.807 0.240 17 38739601 missense variant G/A snv 10
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs1554385305
CAMK2B
0.925 0.040 7 44241784 splice acceptor variant C/T snv 7