Disease: Generalized hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555736565
CACNA1A
0.925 0.080 19 13230191 missense variant C/A;T snv 3
rs750371878
HACE1
0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05 4
rs775835429
SLC19A3
0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05 4
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv 5
rs1057519444
SYN3
0.925 0.120 22 32518208 missense variant GG/AA mnv 5
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
rs145999922
SLC19A3
0.882 0.040 2 227699378 missense variant A/G snv 4.4E-05 4.2E-05 5
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
rs778899140
PDE10A
0.925 6 165450268 missense variant T/C snv 4.0E-06 5
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs1057519566
MDH2
0.851 0.160 7 76063579 missense variant C/T snv 7
rs1135401746
GNB1
0.827 0.400 1 1806512 missense variant C/G snv 7
rs375002796
MDH2
0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05 7
rs1057519521
EBF3
0.851 0.120 10 129963375 frameshift variant TCTC/- del 8
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 8
rs794727792
STXBP1
0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 8
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv 9
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 9
rs1555043939
KMT2A
0.851 0.240 11 118496323 frameshift variant -/G delins 9
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
rs72554640
PGK1 ; ATP7A
0.882 0.160 X 78011239 stop gained C/T snv 9
rs753242774
MIR1226 ; DHX30
0.882 0.120 3 47848237 missense variant C/A;T snv 9