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: rs77375493
rs77375493
JAK2 ; INSL6
10 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.900 0.960 0 2005 2019
dbSNP: rs1057519753
rs1057519753
JAK1
4 0.763 0.120 1 64846664 missense variant C/A snv 0.700 1.000 1 2005 2005