Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554109707
FLT4
1.000 5 180613051 missense variant C/G;T snv 3
rs1554117456
CPLANE1
1.000 5 37245569 stop gained C/A snv 3
rs1554236054
ARID1B
1.000 6 157201481 frameshift variant -/G delins 3
rs1554728529
NOTCH1
1.000 9 136508989 frameshift variant A/- del 3
rs1555046615
KMT2A
1.000 11 118503389 frameshift variant A/- del 3
rs1555202806
BBS10
1.000 0.120 12 76348313 frameshift variant AACGCCGC/- delins 3
rs1555248020
MED13L
1.000 12 116009052 stop gained G/C snv 3
rs1555314736
CHD8
1.000 14 21402335 splice donor variant C/T snv 3
rs1555377234
IRF2BPL
1.000 14 77025641 frameshift variant A/- delins 3
rs1555392032
SPRED1
1.000 15 38339805 frameshift variant -/A delins 3
rs1555528558
ANKRD11
1.000 16 89283207 frameshift variant -/T delins 3
rs1555533842
NF1
1.000 17 31330303 frameshift variant -/C delins 3
rs1555535739
CTCF
1.000 16 67626653 stop gained C/T snv 3
rs1555537637
SPNS2
1.000 17 4533107 frameshift variant CC/T delins 3
rs1555565243
RAI1
1.000 17 17794617 frameshift variant CT/- delins 3
rs1555859593
ATP1A3
1.000 19 41970483 missense variant G/T snv 3
rs1555891562
GNAS
1.000 20 58909707 missense variant G/A snv 3
rs1555934843
PDHA1
1.000 X 19357651 splice acceptor variant G/A snv 3
rs1555977248
CASK
1.000 X 41542781 stop gained T/A snv 3
rs1556019107
PHF6
1.000 X 134415106 stop gained C/T snv 3
rs1556779417
RBM10
1.000 X 47181541 frameshift variant GT/- delins 3
rs1557099144
PHF8
1.000 X 53985131 frameshift variant -/C delins 3
rs746765465
THRA
1.000 17 40089359 frameshift variant C/- delins 3
rs747661902
PIGQ
1.000 16 578404 frameshift variant TG/- del 2.8E-05 2.1E-05 3
rs760048191
MSMO1
1.000 4 165341795 missense variant A/C;G snv 1.2E-05 3