Disease: Generalized hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs1135401746
GNB1
0.827 0.400 1 1806512 missense variant C/G snv 7
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv 11
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs750371878
HACE1
0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05 4
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv 9
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 12
rs796052676
KCNQ3
0.807 0.200 8 132180246 missense variant G/A snv 10
rs1131692229
KIDINS220
0.851 0.120 2 8730956 frameshift variant GT/- delins 11
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1555043939
KMT2A
0.851 0.240 11 118496323 frameshift variant -/G delins 9
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 15
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
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
rs375002796
MDH2
0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05 7
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 30
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
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs753242774
MIR1226 ; DHX30
0.882 0.120 3 47848237 missense variant C/A;T snv 9
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv 29
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7