Disease: Generalized hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv 11
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs1561273261
DIMT1 ; KIF2A
0.790 0.160 5 62361307 missense variant G/A snv 17
rs1569190079
PDHA1
0.882 0.160 X 19350044 missense variant G/T snv 10
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 12
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 30
rs372949028
TANGO2
0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 13
rs375002796
MDH2
0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05 7
rs377619533
ASXL3
1.000 18 33743312 stop gained C/A;T snv 2.8E-05 5
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 5
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 8
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 14
rs587783405
CDKL5
0.851 0.160 X 18588021 stop gained C/T snv 9
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv 9
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs72554640
PGK1 ; ATP7A
0.882 0.160 X 78011239 stop gained C/T snv 9
rs750371878
HACE1
0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05 4
rs753242774
MIR1226 ; DHX30
0.882 0.120 3 47848237 missense variant C/A;T snv 9
rs778899140
PDE10A
0.925 6 165450268 missense variant T/C snv 4.0E-06 5
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs794727792
STXBP1
0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 8
rs796052676
KCNQ3
0.807 0.200 8 132180246 missense variant G/A snv 10
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11