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: rs74315450
rs74315450
RUNX1
5 0.851 0.120 21 34859485 missense variant C/T snv 0.800 1.000 9 1999 2017
dbSNP: rs1060499616
rs1060499616
RUNX1 ; LOC112267915
1 1.000 0.120 21 34880568 missense variant C/T snv 0.800 1.000 6 1999 2018
dbSNP: rs1057519748
rs1057519748
RUNX1
5 0.827 0.120 21 34859486 stop gained G/A snv 0.700 1.000 4 1999 2017
dbSNP: rs121912498
rs121912498
RUNX1
1 1.000 0.120 21 34886866 missense variant T/C snv 0.700 1.000 3 2002 2013
dbSNP: rs267607026
rs267607026
RUNX1 ; LOC112267915
1 1.000 0.120 21 34880598 missense variant G/T snv 0.700 1.000 2 2009 2016
dbSNP: rs74315451
rs74315451
RUNX1 ; LOC112267915
2 1.000 0.120 21 34880665 missense variant C/G snv 0.700 1.000 2 2002 2013
dbSNP: rs121912499
rs121912499
RUNX1
1 1.000 0.120 21 34799407 stop gained G/T snv 0.700 1.000 1 2002 2002
dbSNP: rs1555884790
rs1555884790
RUNX1
1 1.000 0.120 21 34792164 frameshift variant -/CG delins 0.700 1.000 1 2012 2012
dbSNP: rs1555889984
rs1555889984
RUNX1
5 0.925 0.120 21 34834536 stop gained C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1555899735
rs1555899735
RUNX1
1 1.000 0.120 21 34886878 missense variant A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1569002296
rs1569002296
RUNX1
1 1.000 0.120 21 34792415 stop gained G/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1569061768
rs1569061768
RUNX1
2 1.000 0.120 21 34859477 stop gained G/A snv 0.700 1.000 1 1999 1999
dbSNP: rs587776809
rs587776809
RUNX1 ; LOC112267915
1 1.000 0.120 21 34880714 splice acceptor variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs587776810
rs587776810
RUNX1 ; LOC112267915
1 1.000 0.120 21 34880554 splice region variant T/- del 0.700 1.000 1 2002 2002
dbSNP: rs587776811
rs587776811
RUNX1 ; LOC112267915
1 1.000 0.120 21 34880616 frameshift variant GCTGCGGT/- del 0.700 1.000 1 2016 2016
dbSNP: rs1060502579
rs1060502579
RUNX1
1 1.000 0.120 21 34886842 splice donor variant C/G;T snv 0.700 0
dbSNP: rs1555899813
rs1555899813
RUNX1
1 1.000 0.120 21 34886977 frameshift variant -/CC delins 0.700 0
dbSNP: rs1569084116
rs1569084116
RUNX1
1 1.000 0.120 21 34886880 missense variant T/G snv 0.700 0
dbSNP: rs1569084530
rs1569084530
RUNX1
1 1.000 0.120 21 34887000 frameshift variant -/GGCGTCCGGGGCGCCCAGCGGCAACGCC delins 0.700 0
dbSNP: rs895580593
rs895580593
RUNX1
1 1.000 0.120 21 34792596 missense variant T/A;C;G snv 4.9E-06 0.010 1.000 1 2019 2019