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: rs1060499548
rs1060499548
ABL1
27 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563
CNTNAP1
58 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1555043939
rs1555043939
KMT2A
9 0.851 0.240 11 118496323 frameshift variant -/G delins 0.700 0
dbSNP: rs1555528356
rs1555528356
ANKRD11
13 0.790 0.360 16 89282836 stop gained G/A snv 0.700 0