Gene: RUNX1 ×
Source: CLINVAR ×
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: rs1057519749
rs1057519749
RUNX1 ; LOC112267915
1 1.000 0.040 21 34880579 missense variant C/A;G snv 0.700 1.000 3 2014 2014
dbSNP: rs1057519750
rs1057519750
RUNX1 ; LOC112267915
1 1.000 0.040 21 34880580 missense variant C/T snv 0.700 1.000 2 2009 2014
dbSNP: rs1057519748
rs1057519748
RUNX1
2 0.827 0.120 21 34859486 stop gained G/A snv 0.700 1.000 1 1999 1999