Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs868064163
ACTL6A
1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 13
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv 11
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins 9
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 15
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13
rs140119177
FAM120AOS
0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04 7
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs201439531
CHAT
0.827 0.200 10 49664880 missense variant C/G snv 7.0E-06 11
rs769234940
CHAT
0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 11
rs1057519565
DEAF1
0.851 0.200 11 687941 missense variant C/T snv 9
rs751093906
SLC20A2
0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06 8
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs1554781700
COL5A1
0.851 0.240 9 134701287 missense variant G/T snv 12
rs1567941252
PCGF2
0.807 0.240 17 38739601 missense variant G/A snv 10
rs397515415
HDAC8
0.807 0.240 X 72495216 stop gained G/A;T snv 10
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16