IKZF2, IKAROS family zinc finger 2, 22807

N. diseases: 39; N. variants: 8
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: rs10048743
rs10048743
1.000 0.080 2 213025508 intron variant G/T snv 0.78
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 2 2015 2016
dbSNP: rs10186029
rs10186029
1.000 0.040 2 213064562 intron variant C/T snv 0.40
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs112905092
rs112905092
2 213147501 3 prime UTR variant C/T snv 9.9E-03
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
dbSNP: rs1586068
rs1586068
2 213033508 intron variant A/G snv 0.81
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2016 2016
dbSNP: rs1586068
rs1586068
2 213033508 intron variant A/G snv 0.81
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.700 1.000 1 2016 2016
dbSNP: rs2291241
rs2291241
1.000 0.040 2 213021730 intron variant A/C;G;T snv 2.5E-05; 0.82
CUI: C0013595
Disease: Eczema
Eczema
Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3768792
rs3768792
1.000 0.080 2 213006985 3 prime UTR variant G/A snv 0.78
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs60383584
rs60383584
2 213096968 intron variant G/A snv 0.38
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs6709554
rs6709554
2 213147784 synonymous variant C/T snv 0.27 0.26
Serum gamma-glutamyl transferase measurement
0.700 1.000 1 2019 2019