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: rs1057519748
rs1057519748
RUNX1
5 0.827 0.120 21 34859486 stop gained G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1360215152
rs1360215152
SH2B3
3 0.882 0.040 12 111418746 synonymous variant C/T snv 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs1446346250
rs1446346250
RUNX1
3 0.882 0.040 21 34834533 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2017 2017