Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555743003
rs1555743003
ASXL3
58 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1060499549
rs1060499549
ZNF462
4 0.882 0.120 9 106927699 stop gained C/T snv 0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs137854539
rs137854539
GNAS
28 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
dbSNP: rs1557036768
rs1557036768
HUWE1
44 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0