Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121434614
PAK3
0.925 0.200 X 111196570 missense variant G/C snv 3
rs141228574
COQ4
1.000 0.200 9 128332233 missense variant G/C snv 6.3E-03 5.5E-03 2
rs723744
TTR
0.925 0.200 18 31592513 intron variant G/T snv 0.38 3
rs869025287
MED13L
0.925 0.200 12 115969040 frameshift variant GCCAATAT/- delins 2
rs878853142
RAI1
1.000 0.200 17 17795278 frameshift variant GGCAT/- delins 1
rs121918523
PHF8
0.925 0.200 X 54016662 stop gained T/A snv 3
rs255012 1.000 0.200 7 41189487 regulatory region variant T/A;C snv 2
rs4846049
C1orf167 ; MTHFR
0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 11
rs587776690
ATR
0.882 0.280 3 142556439 synonymous variant T/C snv 4
rs61748392
MECP2
0.925 0.200 X 154031418 missense variant T/C snv 3
rs10410239
CC2D1A
1.000 0.200 19 13919876 synonymous variant T/C snv 0.27 0.38 2
rs122455132
SLC16A2
0.925 0.200 X 74529232 missense variant T/C snv 2
rs1471281484
WAPL
1.000 0.200 10 86500266 missense variant T/C snv 4.0E-06 2
rs3758653
DRD4
1.000 0.200 11 636399 upstream gene variant T/C snv 0.20 2
rs6530893
TUSC3
1.000 0.200 8 15671068 intron variant T/C snv 0.14 2
rs6994908
TUSC3
1.000 0.200 8 15674943 intron variant T/C snv 0.32 2
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
rs267608383
MECP2
1.000 0.200 X 154030643 frameshift variant TCGGGCTC/- delins 5.8E-06 2
rs878853152
CUL4B
1.000 0.200 X 120547154 frameshift variant TG/- delins 1
rs724159950
DYRK1A ; LOC105372797
1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 6
rs878853146
IL1RAPL1
1.000 0.200 X 29917576 frameshift variant TTGGGAAAGT/- delins 1
rs796053290
SLC9A6
0.925 0.280 X 135998095 splice region variant TTTTA/- delins 2