FLT1, fms related receptor tyrosine kinase 1, 2321

N. diseases: 424; N. variants: 33
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: rs2296188
rs2296188 		0.925 0.200 13 28319347 intron variant T/C snv 0.70
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2296188
rs2296188 		0.925 0.200 13 28319347 intron variant T/C snv 0.70
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs2296189
rs2296189 		13 28319505 synonymous variant A/C;G snv 8.0E-06; 0.21
CUI: C0034885
Disease: Rectal Neoplasms
Rectal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs7987649
rs7987649 		0.925 0.080 13 28320278 intron variant A/G snv 0.35
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs7987649
rs7987649 		0.925 0.080 13 28320278 intron variant A/G snv 0.35
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs7987649
rs7987649 		0.925 0.080 13 28320278 intron variant A/G snv 0.35
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs7987649
rs7987649 		0.925 0.080 13 28320278 intron variant A/G snv 0.35
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs17619601
rs17619601 		1.000 0.080 13 28326373 intron variant C/T snv 5.0E-02
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs9554322
rs9554322 		1.000 0.040 13 28339694 intron variant G/C;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs7324547
rs7324547 		1.000 0.080 13 28355470 intron variant A/G snv 0.64
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs17625898
rs17625898 		1.000 0.080 13 28358693 intron variant T/A;G snv
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs9508017
rs9508017 		13 28360227 intron variant C/T snv 0.23
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs2296283
rs2296283 		1.000 0.040 13 28389565 3 prime UTR variant G/A snv 0.42
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs950473882
rs950473882 		13 28389975 missense variant T/C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs950473882
rs950473882 		13 28389975 missense variant T/C snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs377395740
rs377395740 		1.000 0.040 13 28389988 missense variant G/A;C;T snv 4.4E-05; 4.0E-06; 4.0E-06
CUI: C0334511
Disease: Pleural Solitary Fibrous Tumor
Pleural Solitary Fibrous Tumor 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs7983774
rs7983774 		13 28390188 intron variant G/A;T snv
CUI: C0034885
Disease: Rectal Neoplasms
Rectal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs9319428
rs9319428 		0.925 0.080 13 28399484 intron variant G/A snv 0.30
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.800 1.000 2 2013 2018
dbSNP: rs9319428
rs9319428 		0.925 0.080 13 28399484 intron variant G/A snv 0.30
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs9319428
rs9319428 		0.925 0.080 13 28399484 intron variant G/A snv 0.30
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs9319428
rs9319428 		0.925 0.080 13 28399484 intron variant G/A snv 0.30
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs9508025
rs9508025 		0.925 0.040 13 28409926 intron variant C/G;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2013 2016
dbSNP: rs9508025
rs9508025 		0.925 0.040 13 28409926 intron variant C/G;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.800 1.000 1 2013 2013
dbSNP: rs9943922
rs9943922 		1.000 0.040 13 28420518 intron variant T/C snv 0.42
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.020 1.000 2 2016 2018
dbSNP: rs9513111
rs9513111 		0.882 0.080 13 28423426 intron variant C/T snv 0.75
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2019 2019