Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs41316003
rs41316003
JAK2 ; INSL6
1.000 0.040 9 5126343 missense variant G/A;C snv 4.4E-03
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.010 1.000 1 2016 2016