Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555706391
SETBP1
1.000 18 44950745 frameshift variant A/- delins 2
rs1554237050
ARID1B
6 157206240 frameshift variant A/- delins 1
rs869312822
GNB1
0.827 0.200 1 1806514 missense variant A/C snv 8
rs137853105
MKS1
0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05 4
rs746882521
PIGN
0.925 18 62143337 missense variant A/C snv 3.0E-05 4.9E-05 4
rs397516893
BRAF
0.925 0.160 7 140778048 missense variant A/C snv 3
rs786204963
CDKL5
0.925 0.080 X 18588055 missense variant A/C snv 3
rs1553255501
ACTA1
1 229432792 missense variant A/C snv 1
rs1553547885
SATB2
2 199328831 missense variant A/C snv 1
rs1554770046
GRIN1
9 137162184 missense variant A/C snv 1
rs886041877
PTEN
1.000 10 87894025 missense variant A/C;G snv 4
rs1555721921
TCF4
0.925 0.200 18 55234546 splice donor variant A/C;G snv 3
rs760048191
MSMO1
1.000 4 165341795 missense variant A/C;G snv 1.2E-05 3
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv 5
rs141760116
SMN2 ; SMN1
0.925 0.080 5 70951939 splice acceptor variant A/C;G;T snv 4.0E-06 3
rs180177042
BRAF
0.807 0.280 7 140749365 missense variant A/C;T snv 8
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 16
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 11
rs1554122526
CAMK2A
0.882 0.040 5 150256811 missense variant A/G snv 9
rs80358259
NPC1
0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 9