Disease: Generalized hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 9
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs1557106484
ATRX
X 77633315 missense variant C/A snv 7
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs753242774
MIR1226 ; DHX30
0.882 0.120 3 47848237 missense variant C/A;T snv 9
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 45
rs875989777
CTSA
0.851 0.320 20 45894704 frameshift variant AT/- delins 9
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 10
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19