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: rs1555743003
rs1555743003
ASXL3
58 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs1555471098
rs1555471098
CREBBP
6 0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del 0.700 0
dbSNP: rs1555528356
rs1555528356
ANKRD11
13 0.790 0.360 16 89282836 stop gained G/A snv 0.700 0
dbSNP: rs1555968941
rs1555968941
CACNA1C
31 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
54 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0