JAK3, Janus kinase 3, 3718

N. diseases: 194; N. variants: 28
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3212780
rs3212780
1.000 0.040 19 17830033 synonymous variant G/A snv 0.21 0.21
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.010 1.000 1 2016 2016