Disease: Generalized hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519566
MDH2
0.851 0.160 7 76063579 missense variant C/T snv 7
rs1131692228
ACTL6B
0.925 0.160 7 100646637 missense variant C/T snv 5
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 9
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv 17
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs375002796
MDH2
0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05 7
rs587783405
CDKL5
0.851 0.160 X 18588021 stop gained C/T snv 9
rs72554640
PGK1 ; ATP7A
0.882 0.160 X 78011239 stop gained C/T snv 9
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv 11
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1057519567
MDH2
0.882 0.040 7 76063554 frameshift variant G/- delins 5
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv 9
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv 5
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv 29
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
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 8
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs750371878
HACE1
0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05 4
rs796052676
KCNQ3
0.807 0.200 8 132180246 missense variant G/A snv 10
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 19
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