Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs1553770577
NPHP3-ACAD11 ; UBA5
0.724 0.480 3 132675342 missense variant T/C snv 37
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins 10
rs869312704
TBR1
0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 10
rs869312822
GNB1
0.827 0.200 1 1806514 missense variant A/C snv 8
rs953686324
CLCNKB
0.851 0.160 1 16044506 frameshift variant -/G delins 4.3E-06 5.6E-05 7
rs1568925507
KCNQ2
1.000 20 63438654 inframe insertion -/TCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTC delins 5