Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057517825
DERL3 ; SMARCB1
0.925 22 23834143 missense variant G/A snv 4
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs116128702
DNAH5
1.000 5 13923369 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 4
rs121434407
LOC101929270 ; GLE1
0.882 0.120 9 128536414 missense variant G/A snv 2.7E-04 9.8E-05 5
rs1247427997
TMCO1
1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4
rs1304422857
UBE3B
1.000 12 109511304 splice donor variant G/A;T snv 3
rs1313319892
POGZ
1.000 1 151406306 stop gained G/A;T snv 7.0E-06 3
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs1350201776
ZNF335
20 45952244 missense variant C/T snv 4.0E-06 3
rs137852217
AMER1
0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05 4
rs137852863
NDUFAF2
0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 5
rs137854562
NF1
0.925 0.120 17 31235623 stop gained C/T snv 4
rs138632121
THOC6 ; HCFC1R1
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 13
rs147001633
DNMT3A
0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 15
rs147334255
MN1
1.000 22 27750995 stop gained G/A snv 3
rs150940923
THOC6
1.000 0.240 16 3027170 missense variant G/C snv 1.8E-04 2.0E-04 3
rs1553153365
HNRNPR
1 23310702 stop gained G/A snv 2
rs1553249737
TMCO1
1.000 1 165743263 stop gained G/T snv 4
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv 4
rs1554109707
FLT4
1.000 5 180613051 missense variant C/G;T snv 3
rs1554117456
CPLANE1
1.000 5 37245569 stop gained C/A snv 3
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv 4
rs1554698878
HNRNPK
0.925 9 83971976 stop gained G/A snv 4
rs1555248020
MED13L
1.000 12 116009052 stop gained G/C snv 3
rs1555314736
CHD8
1.000 14 21402335 splice donor variant C/T snv 3