ITK, IL2 inducible T cell kinase, 3702

N. diseases: 117; 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: rs121908191
rs121908191 		1.000 5 157241663 missense variant C/T snv
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1 		0.800 1.000 1 2009 2009
dbSNP: rs411174
rs411174 		5 157181989 intron variant G/A snv 0.34
CUI: C0233849
Disease: Personality Traits
Personality Traits 		Behavior and Behavior Mechanisms 0.800 1.000 1 2011 2011
dbSNP: rs111782388
rs111782388 		5 157202838 intron variant C/T snv 6.3E-02
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs13360007
rs13360007 		1.000 0.040 5 157150709 intron variant A/G snv 0.15
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs450067
rs450067 		5 157228005 intron variant G/T snv 0.70
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs397514260
rs397514260 		1.000 5 157248980 stop gained C/G snv
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1 		0.700 0
dbSNP: rs397514261
rs397514261 		1.000 5 157181063 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1 		0.700 0
dbSNP: rs779372373
rs779372373 		1.000 0.080 5 157244381 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs246871
rs246871 		0.882 0.160 5 157158243 intron variant T/C snv 0.42
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.020 1.000 2 2014 2019
dbSNP: rs31223
rs31223 		0.925 0.120 5 157198268 intron variant T/A;C snv
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.020 1.000 2 2014 2019
dbSNP: rs140451238
rs140451238 		1.000 0.080 5 157208978 synonymous variant T/C snv 1.6E-04 7.8E-04
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs140451238
rs140451238 		1.000 0.080 5 157208978 synonymous variant T/C snv 1.6E-04 7.8E-04
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs246871
rs246871 		0.882 0.160 5 157158243 intron variant T/C snv 0.42
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs246871
rs246871 		0.882 0.160 5 157158243 intron variant T/C snv 0.42
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs31223
rs31223 		0.925 0.120 5 157198268 intron variant T/A;C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs886713435
rs886713435 		1.000 0.120 5 157245984 missense variant G/A snv 4.0E-06
CUI: C0024307
Disease: Lymphomatoid Granulomatosis
Lymphomatoid Granulomatosis 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019