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: rs121918462
rs121918462
PTPN11
13 0.742 0.320 12 112450398 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs28928907
rs28928907
MPL
4 0.882 0.160 1 43338634 missense variant G/A;C snv 8.0E-06; 3.8E-04 0.010 1.000 1 2019 2019
dbSNP: rs757006129
rs757006129
CHRNE ; GP1BA
3 1.000 0.160 17 4933521 missense variant G/A snv 2.4E-05 1.4E-05 0.010 1.000 1 2015 2015