JAK1, Janus kinase 1, 3716

N. diseases: 116; N. variants: 12
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: rs114269697
rs114269697
1 64848529 intron variant C/A snp 7.2E-03
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.700 1 2017 2017
dbSNP: rs12408934
rs12408934
1 64957764 intron variant G/A snp 6.6E-02
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.700 1 2017 2017