Disease: Generalized hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv 9
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv 5
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
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
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
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv 29
rs1131692228
ACTL6B
0.925 0.160 7 100646637 missense variant C/T snv 5
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
rs1135401746
GNB1
0.827 0.400 1 1806512 missense variant C/G snv 7
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 19
rs145999922
SLC19A3
0.882 0.040 2 227699378 missense variant A/G snv 4.4E-05 4.2E-05 5
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11