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: rs796065343
rs796065343
CSF3R
12 0.776 0.080 1 36467833 missense variant G/A snv 0.050 1.000 5 2014 2020
dbSNP: rs267607040
rs267607040
SETBP1
5 0.851 0.320 18 44951948 missense variant G/A snv 0.020 1.000 2 2013 2020
dbSNP: rs121918426
rs121918426
CSF3R
3 0.882 0.080 1 36467597 missense variant G/A;T snv 4.1E-04 0.010 1.000 1 2016 2016
dbSNP: rs371246226
rs371246226
U2AF1
8 0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05 0.010 1.000 1 2020 2020
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2008 2008