FOXP3, forkhead box P3, 50943

N. diseases: 688; N. variants: 27
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: rs200554980
rs200554980 		1.000 0.200 X 49257541 missense variant G/A snv 2.6E-04 2.3E-04
CUI: C0342288
Disease: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2232365
rs2232365 		0.716 0.480 X 49259429 intron variant T/C snv
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		Infections 0.010 1.000 1 2019 2019
dbSNP: rs2232365
rs2232365 		0.716 0.480 X 49259429 intron variant T/C snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2232365
rs2232365 		0.716 0.480 X 49259429 intron variant T/C snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2232365
rs2232365 		0.716 0.480 X 49259429 intron variant T/C snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2232365
rs2232365 		0.716 0.480 X 49259429 intron variant T/C snv
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease 		Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2232365
rs2232365 		0.716 0.480 X 49259429 intron variant T/C snv
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2232365
rs2232365 		0.716 0.480 X 49259429 intron variant T/C snv
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2232365
rs2232365 		0.716 0.480 X 49259429 intron variant T/C snv
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2232365
rs2232365 		0.716 0.480 X 49259429 intron variant T/C snv
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs2232365
rs2232365 		0.716 0.480 X 49259429 intron variant T/C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2232365
rs2232365 		0.716 0.480 X 49259429 intron variant T/C snv
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs2232365
rs2232365 		0.716 0.480 X 49259429 intron variant T/C snv
CUI: C0333873
Disease: Squamous intraepithelial lesion
Squamous intraepithelial lesion 		Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2019 2019
dbSNP: rs2232365
rs2232365 		0.716 0.480 X 49259429 intron variant T/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2232365
rs2232365 		0.716 0.480 X 49259429 intron variant T/C snv
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2232365
rs2232365 		0.716 0.480 X 49259429 intron variant T/C snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs2232365
rs2232365 		0.716 0.480 X 49259429 intron variant T/C snv
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2232366
rs2232366 		1.000 0.040 X 49258209 intron variant C/A;G snv
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs2232367
rs2232367 		1.000 0.120 X 49256855 splice region variant G/A snv 3.1E-02 3.0E-02
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2232368
rs2232368 		1.000 0.040 X 49255822 intron variant C/T snv 2.3E-02 1.4E-02
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs2280883
rs2280883 		0.827 0.280 X 49252667 intron variant T/C snv 0.30
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2280883
rs2280883 		0.827 0.280 X 49252667 intron variant T/C snv 0.30
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2280883
rs2280883 		0.827 0.280 X 49252667 intron variant T/C snv 0.30
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2280883
rs2280883 		0.827 0.280 X 49252667 intron variant T/C snv 0.30
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2013 2013
dbSNP: rs2280883
rs2280883 		0.827 0.280 X 49252667 intron variant T/C snv 0.30
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.010 1.000 1 2018 2018