Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.040 1.000 4 2015 2019
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 1.000 4 2014 2019
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 1.000 4 2014 2019
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		0.030 0.667 3 2011 2017
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2018 2019
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.020 1.000 2 2014 2018
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2018 2019
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.020 1.000 2 2013 2016
dbSNP: rs3761548
rs3761548
FOXP3
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) 		0.020 1.000 2 2013 2013
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.020 1.000 2 2013 2019
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.020 1.000 2 2013 2013
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2014 2018
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.020 1.000 2 2013 2013
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2019 2019
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.010 < 0.001 1 2019 2019
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2018 2018
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2014 2014
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.010 < 0.001 1 2017 2017
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 1.000 1 2019 2019
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.010 1.000 1 2016 2016
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 < 0.001 1 2017 2017
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		0.010 1.000 1 2018 2018
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.010 1.000 1 2016 2016