Disease: Generalized hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1135401746
GNB1
0.827 0.400 1 1806512 missense variant C/G snv 7
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
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
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs1131692229
KIDINS220
0.851 0.120 2 8730956 frameshift variant GT/- delins 11
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 9
rs145999922
SLC19A3
0.882 0.040 2 227699378 missense variant A/G snv 4.4E-05 4.2E-05 5
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 14
rs775835429
SLC19A3
0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05 4
rs753242774
MIR1226 ; DHX30
0.882 0.120 3 47848237 missense variant C/A;T snv 9
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1561273261
DIMT1 ; KIF2A
0.790 0.160 5 62361307 missense variant G/A snv 17
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv 5
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
rs778899140
PDE10A
0.925 6 165450268 missense variant T/C snv 4.0E-06 5
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11
rs1057519566
MDH2
0.851 0.160 7 76063579 missense variant C/T snv 7
rs1057519567
MDH2
0.882 0.040 7 76063554 frameshift variant G/- delins 5
rs1131692228
ACTL6B
0.925 0.160 7 100646637 missense variant C/T snv 5
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 15
rs375002796
MDH2
0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05 7