JAK3, Janus kinase 3, 3718

N. diseases: 194; N. variants: 28
Disease: CTLA4 Haploinsufficiency ×
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: rs1467075214
rs1467075214 		1.000 0.040 19 17842599 missense variant C/T snv
CUI: C4015214
Disease: CTLA4 Haploinsufficiency
CTLA4 Haploinsufficiency 		Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs200077579
rs200077579 		1.000 0.040 19 17832681 missense variant G/A snv 2.2E-04 2.5E-04
CUI: C4015214
Disease: CTLA4 Haploinsufficiency
CTLA4 Haploinsufficiency 		Immune System Diseases 0.010 1.000 1 2017 2017