Disease: Generalized hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv 5
rs377619533
ASXL3
1.000 18 33743312 stop gained C/A;T snv 2.8E-05 5
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
rs1057519567
MDH2
0.882 0.040 7 76063554 frameshift variant G/- delins 5
rs145999922
SLC19A3
0.882 0.040 2 227699378 missense variant A/G snv 4.4E-05 4.2E-05 5
rs775835429
SLC19A3
0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05 4
rs1555736565
CACNA1A
0.925 0.080 19 13230191 missense variant C/A;T snv 3
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 15
rs1057519444
SYN3
0.925 0.120 22 32518208 missense variant GG/AA mnv 5
rs1057519521
EBF3
0.851 0.120 10 129963375 frameshift variant TCTC/- del 8
rs1131692229
KIDINS220
0.851 0.120 2 8730956 frameshift variant GT/- delins 11
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 8
rs753242774
MIR1226 ; DHX30
0.882 0.120 3 47848237 missense variant C/A;T snv 9
rs794727792
STXBP1
0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 8
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
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
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
rs375002796
MDH2
0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05 7
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 5
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