Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61753016
MECP2
1.000 0.200 X 154030614 missense variant G/A snv 6.8E-05 3.9E-05 2
rs869025287
MED13L
0.925 0.200 12 115969040 frameshift variant GCCAATAT/- delins 2
rs864309503
MORC2
0.882 0.200 22 30941503 missense variant G/A snv 5
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 10
rs878853147
NLGN3
0.925 0.200 X 71169399 missense variant C/T snv 3
rs1427146168
NUP214
1.000 0.200 9 131140671 stop gained C/T snv 2
rs5030849
PAH
0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 6
rs121434613
PAK3
0.882 0.240 X 111194402 missense variant C/A snv 4
rs121434614
PAK3
0.925 0.200 X 111196570 missense variant G/C snv 3
rs1278838206
PCDH19
0.925 0.200 X 100296654 missense variant C/T snv 1.1E-05 3
rs1555455456
PDIA3
1.000 0.200 15 43753826 missense variant G/A snv 1
rs121918524
PHF8
0.827 0.200 X 54011232 missense variant A/G snv 6
rs121918523
PHF8
0.925 0.200 X 54016662 stop gained T/A snv 3
rs878853148
PHF8
1.000 0.200 X 54002150 splice region variant C/G snv 1
rs1249144069
PITRM1-AS1 ; PITRM1
0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 5
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 22
rs185645212
POLG
0.851 0.240 15 89323504 missense variant C/A;T snv 8.0E-06; 9.7E-04 6
rs878853145
PQBP1 ; SLC35A2
1.000 0.200 X 48903017 missense variant C/T snv 1
rs1335072648
RAD21
1.000 0.200 8 116854423 missense variant C/T snv 4.0E-06 2
rs878853142
RAI1
1.000 0.200 17 17795278 frameshift variant GGCAT/- delins 1
rs745986648
SGO1-AS1 ; SGO1
1.000 0.200 3 20174431 missense variant C/T snv 1.2E-05 7.0E-06 2
rs1555910048
SHANK3
1.000 0.200 22 50720739 frameshift variant -/CCGTGGGCAGCCCCGG delins 1