NFATC2, nuclear factor of activated T cells 2, 4773

N. diseases: 154; N. variants: 22
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: rs17728960
rs17728960 		20 51513177 intron variant T/C snv 5.1E-02
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs17801791
rs17801791 		20 51522481 intron variant C/A;G snv
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs3787186
rs3787186 		20 51536805 intron variant T/C snv 0.68
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs6021264
rs6021264 		20 51518144 intron variant A/G snv 6.1E-02
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs6021268
rs6021268 		20 51524602 intron variant T/C snv 5.8E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs6021268
rs6021268 		20 51524602 intron variant T/C snv 5.8E-02
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs6021268
rs6021268 		20 51524602 intron variant T/C snv 5.8E-02
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs6021270
rs6021270 		20 51524725 intron variant T/C snv 5.7E-02
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs6096463
rs6096463 		20 51531498 intron variant G/A snv 5.6E-02
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs6123048
rs6123048 		20 51530861 intron variant A/G snv 5.6E-02
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs6126249
rs6126249 		20 51526084 intron variant G/A snv 5.7E-02
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs754559199
rs754559199 		20 51460706 intron variant C/T snv 1.3E-04
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs768194029
rs768194029 		20 51523286 missense variant G/A;C snv 4.0E-06
CUI: C0949664
Disease: Tauopathies
Tauopathies 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs6021191
rs6021191 		0.851 0.120 20 51419700 intron variant A/T snv 4.9E-02
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs6021191
rs6021191 		0.851 0.120 20 51419700 intron variant A/T snv 4.9E-02
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs6021191
rs6021191 		0.851 0.120 20 51419700 intron variant A/T snv 4.9E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs6021191
rs6021191 		0.851 0.120 20 51419700 intron variant A/T snv 4.9E-02
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs6021191
rs6021191 		0.851 0.120 20 51419700 intron variant A/T snv 4.9E-02
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2015 2015
dbSNP: rs12625547
rs12625547 		0.925 0.080 20 51538108 intron variant T/G snv 0.18
CUI: C0042345
Disease: Varicosity
Varicosity 		Cardiovascular Diseases 0.700 1.000 2 2018 2019
dbSNP: rs12625547
rs12625547 		0.925 0.080 20 51538108 intron variant T/G snv 0.18
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs16996066
rs16996066 		0.925 0.040 20 51519305 intron variant C/T snv 4.1E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs16996066
rs16996066 		0.925 0.040 20 51519305 intron variant C/T snv 4.1E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs757748401
rs757748401 		0.925 0.120 20 51542465 missense variant C/A;T snv 5.2E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs757748401
rs757748401 		0.925 0.120 20 51542465 missense variant C/A;T snv 5.2E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs757748401
rs757748401 		0.925 0.120 20 51542465 missense variant C/A;T snv 5.2E-06
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2016 2016