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: rs746800707
rs746800707
AAR2
8 0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0