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: rs886044787
rs886044787 		1.000 0.200 X 49253155 missense variant G/C snv
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 0.710 1.000 7 2000 2011
dbSNP: rs122467169
rs122467169 		1.000 0.200 X 49251698 missense variant A/C snv
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 0.800 1.000 6 2000 2011
dbSNP: rs3761548
rs3761548 		0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2014 2019
dbSNP: rs3761548
rs3761548 		0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2014 2019
dbSNP: rs3761548
rs3761548 		0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.040 1.000 4 2015 2019
dbSNP: rs122467170
rs122467170 		1.000 0.200 X 49251480 missense variant C/T snv
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 0.700 1.000 3 2001 2017
dbSNP: rs3761548
rs3761548 		0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.030 0.667 3 2011 2017
dbSNP: rs1057520529
rs1057520529 		0.851 0.320 X 49251440 missense variant C/T snv
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 0.020 1.000 2 2014 2017
dbSNP: rs2280883
rs2280883 		0.827 0.280 X 49252667 intron variant T/C snv 0.30
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2018 2019
dbSNP: rs2280883
rs2280883 		0.827 0.280 X 49252667 intron variant T/C snv 0.30
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2018 2019
dbSNP: rs3761548
rs3761548 		0.620 0.680 X 49261784 intron variant G/A;T 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 0.020 1.000 2 2013 2013
dbSNP: rs3761548
rs3761548 		0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2014 2018
dbSNP: rs3761548
rs3761548 		0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2013 2016
dbSNP: rs3761548
rs3761548 		0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2014 2018
dbSNP: rs3761548
rs3761548 		0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.020 1.000 2 2013 2013
dbSNP: rs3761548
rs3761548 		0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2018 2019
dbSNP: rs3761548
rs3761548 		0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2018 2019
dbSNP: rs3761548
rs3761548 		0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.020 1.000 2 2013 2013
dbSNP: rs3761548
rs3761548 		0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.020 1.000 2 2013 2019
dbSNP: rs3761549
rs3761549 		0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2011 2012
dbSNP: rs3761549
rs3761549 		0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.020 1.000 2 2014 2019
dbSNP: rs3761549
rs3761549 		0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2018 2019
dbSNP: rs3761549
rs3761549 		0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2018 2019
dbSNP: rs886041596
rs886041596 		1.000 0.200 X 49258295 splice donor variant C/A;G snv
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 0.700 1.000 2 2001 2001
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