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: 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 2013 2013
dbSNP: rs80356682
rs80356682
LAMB3
7 0.790 0.120 1 209625721 stop gained G/A snv 5.1E-04 4.8E-04 0.010 1.000 1 2002 2002