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: rs5742933
rs5742933 		0.882 0.080 2 189784590 5 prime UTR variant G/A;C snv
CUI: C0696113
Disease: Serum ferritin measurement
Serum ferritin measurement 		0.700 1.000 1 2014 2014
dbSNP: rs5742933
rs5742933 		0.882 0.080 2 189784590 5 prime UTR variant G/A;C snv
CUI: C0373607
Disease: Ferritin measurement
Ferritin measurement 		0.700 1.000 1 2014 2014
dbSNP: rs5743077
rs5743077 		2 189832613 intron variant G/A;C snv
CUI: C0373607
Disease: Ferritin measurement
Ferritin measurement 		0.700 1.000 1 2017 2017
dbSNP: rs5743077
rs5743077 		2 189832613 intron variant G/A;C snv
CUI: C0696113
Disease: Serum ferritin measurement
Serum ferritin measurement 		0.700 1.000 1 2017 2017
dbSNP: rs5743185
rs5743185 		2 189873112 intron variant G/A snv 6.0E-02
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2011 2011
dbSNP: rs1233255
rs1233255 		1.000 0.040 2 189841366 intron variant A/C snv 0.27
CUI: C0011603
Disease: Dermatitis
Dermatitis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs5742933
rs5742933 		0.882 0.080 2 189784590 5 prime UTR variant G/A;C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs5742933
rs5742933 		0.882 0.080 2 189784590 5 prime UTR variant G/A;C snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs5742933
rs5742933 		0.882 0.080 2 189784590 5 prime UTR variant G/A;C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs5743030
rs5743030 		1.000 0.080 2 189813819 intron variant G/A snv 0.11
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs5743100
rs5743100 		1.000 0.080 2 189841127 intron variant G/T snv 9.2E-02
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs756580931
rs756580931 		1.000 0.160 2 189863996 missense variant A/G snv
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs758168664
rs758168664 		0.925 0.080 2 189854401 frameshift variant G/- delins 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs758168664
rs758168664 		0.925 0.080 2 189854401 frameshift variant G/- delins 1.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009