Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1556200443
CUL4B
1.000 X 120538659 splice donor variant C/- delins 2
rs1553479405
GLI2
1.000 2 120989603 frameshift variant C/- del 3
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv 4
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs368820286
ALDH7A1
1.000 5 126549924 splice region variant C/T snv 2.0E-05 1.4E-05 3
rs1554767317
DNM1 ; CIZ1
1.000 9 128203604 missense variant G/A snv 2
rs121434407
LOC101929270 ; GLE1
0.882 0.120 9 128536414 missense variant G/A snv 2.7E-04 9.8E-05 5
rs1426926688
LAMC3
1.000 9 131038920 frameshift variant AGCACAG/- del 8.0E-06 1.4E-05 2
rs1057520918
CACNA1A
0.790 0.160 19 13262780 missense variant C/T snv 11
rs886037945
CACNA1A
0.827 0.160 19 13303584 missense variant C/T snv 6
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 9
rs777218310
ECHS1
0.925 10 133369907 frameshift variant TA/- delins 1.6E-05 1.3E-04 4
rs1556019107
PHF6
1.000 X 134415106 stop gained C/T snv 3
rs1556026984
HPRT1
0.925 0.120 X 134475194 missense variant G/C snv 4
rs1554728529
NOTCH1
1.000 9 136508989 frameshift variant A/- del 3
rs1554770667
GRIN1
0.882 9 137163845 missense variant C/T snv 4
rs116128702
DNAH5
1.000 5 13923369 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 4
rs1554129039
PURA
1.000 5 140114334 frameshift variant A/- del 3
rs180177042
BRAF
0.807 0.280 7 140749365 missense variant A/C;T snv 8
rs180177040
BRAF
0.790 0.360 7 140754187 missense variant T/C;G snv 9
rs180177041
BRAF
0.851 0.240 7 140777006 missense variant C/G snv 5
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv 5
rs397516893
BRAF
0.925 0.160 7 140778048 missense variant A/C snv 3
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs754320812
FBXL6 ; SLC52A2
0.925 8 144360427 missense variant T/C snv 2.4E-05 3.5E-05 4