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: rs1057520015
rs1057520015 		1.000 0.080 18 20955181 missense variant G/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1057520015
rs1057520015 		1.000 0.080 18 20955181 missense variant G/A snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2010 2010
dbSNP: rs111874856
rs111874856 		1.000 0.200 18 21028924 missense variant C/T snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs112108028
rs112108028 		1.000 0.200 18 20959861 missense variant G/A snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs112130712
rs112130712 		1.000 0.200 18 20967783 missense variant T/C snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1481280
rs1481280 		1.000 0.080 18 21075490 intron variant C/A snv 0.31
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1481280
rs1481280 		1.000 0.080 18 21075490 intron variant C/A snv 0.31
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2271255
rs2271255 		1.000 0.080 18 21044113 missense variant T/C snv 3.6E-05 7.0E-06
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs288979
rs288979 		1.000 0.080 18 21031282 intron variant A/G snv 0.21
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs288980
rs288980 		1.000 0.080 18 21029619 intron variant T/C snv 0.66
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs35996865
rs35996865 		0.851 0.280 18 21112383 upstream gene variant T/G snv 0.28
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs35996865
rs35996865 		0.851 0.280 18 21112383 upstream gene variant T/G snv 0.28
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs35996865
rs35996865 		0.851 0.280 18 21112383 upstream gene variant T/G snv 0.28
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs35996865
rs35996865 		0.851 0.280 18 21112383 upstream gene variant T/G snv 0.28
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs531292167
rs531292167 		1.000 0.080 18 21006431 missense variant T/A snv 4.0E-06
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs56085230
rs56085230 		1.000 0.080 18 21042578 synonymous variant G/A snv 6.7E-03 6.3E-03
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs7237677
rs7237677 		1.000 0.080 18 20979714 intron variant G/C snv 0.53
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs73963110
rs73963110 		1.000 0.080 18 21098353 intron variant T/C;G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013