Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1278838206
PCDH19
0.925 0.200 X 100296654 missense variant C/T snv 1.1E-05 3
rs121918364
SRPX2
0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05 5
rs5030849
PAH
0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 6
rs1562928193
KMT2E
1.000 0.200 7 105102045 frameshift variant -/TA delins 1
rs1555050158
GRIA4
0.925 0.200 11 105926808 missense variant A/T snv 2
rs1555050165
GRIA4
0.925 0.200 11 105926814 missense variant A/G snv 3
rs1555050171
GRIA4
0.925 0.200 11 105926821 missense variant C/G snv 2
rs1555050174
GRIA4
0.925 0.200 11 105926824 missense variant C/T snv 2
rs765556214
GRIA4
1.000 0.200 11 105933765 missense variant G/A;C snv 1.6E-05 4.9E-05 1
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
rs869025287
MED13L
0.925 0.200 12 115969040 frameshift variant GCCAATAT/- delins 2
rs1335072648
RAD21
1.000 0.200 8 116854423 missense variant C/T snv 4.0E-06 2
rs4846049
C1orf167 ; MTHFR
0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 11
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 10
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
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs122468181
UPF3B
0.925 0.200 X 119837771 stop gained G/A;T snv 3
rs140032597
UPF3B
0.925 0.200 X 119837923 missense variant C/T snv 6.6E-05 1.1E-04 3
rs762578331
UPF3B
0.925 0.200 X 119837939 missense variant G/A;T snv 8.2E-05; 5.5E-06 3
rs1282813621
UPF3B
0.925 0.200 X 119837956 missense variant C/T snv 4.8E-05 3
rs878853152
CUL4B
1.000 0.200 X 120547154 frameshift variant TG/- delins 1
rs141228574
COQ4
1.000 0.200 9 128332233 missense variant G/C snv 6.3E-03 5.5E-03 2
rs1427146168
NUP214
1.000 0.200 9 131140671 stop gained C/T snv 2