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: rs13181
rs13181 		0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.080 0.750 8 2005 2016
dbSNP: rs1799793
rs1799793 		0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.030 0.667 3 2007 2016
dbSNP: rs759412116
rs759412116 		0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.030 1.000 3 2005 2012
dbSNP: rs13181
rs13181 		0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2008 2008
dbSNP: rs13181
rs13181 		0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C3146250
Disease: Stage III Colorectal Cancer AJCC v7
Stage III Colorectal Cancer AJCC v7 		0.010 1.000 1 2008 2008
dbSNP: rs1799793
rs1799793 		0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C4733093
Disease: progesterone receptor-negative breast cancer
progesterone receptor-negative breast cancer 		0.010 1.000 1 2018 2018
dbSNP: rs1799793
rs1799793 		0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C4733094
Disease: progesterone receptor-positive breast cancer
progesterone receptor-positive breast cancer 		0.010 1.000 1 2018 2018
dbSNP: rs238410
rs238410 		19 45358194 non coding transcript exon variant G/A snv 2.5E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs50872
rs50872 		0.827 0.120 19 45359191 intron variant A/G;T snv
CUI: C4733094
Disease: progesterone receptor-positive breast cancer
progesterone receptor-positive breast cancer 		0.010 1.000 1 2016 2016
dbSNP: rs50872
rs50872 		0.827 0.120 19 45359191 intron variant A/G;T snv
CUI: C4733093
Disease: progesterone receptor-negative breast cancer
progesterone receptor-negative breast cancer 		0.010 1.000 1 2016 2016
dbSNP: rs144564120
rs144564120 		0.925 0.160 19 45352249 missense variant G/C snv 3.1E-04 2.9E-04
CUI: C2826055
Disease: Mixed phenotype acute leukemia T/myeloid
Mixed phenotype acute leukemia T/myeloid 		0.700 0
dbSNP: rs587778271
rs587778271 		0.925 0.160 19 45353296 frameshift variant AA/- delins 2.0E-04
CUI: C4024961
Disease: Metachromatic leukodystrophy variant
Metachromatic leukodystrophy variant 		0.700 0
dbSNP: rs13181
rs13181 		0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs747301897
rs747301897 		1.000 0.040 19 45363999 synonymous variant G/A snv 7.1E-06
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs759412116
rs759412116 		0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs13181
rs13181 		0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.030 1.000 3 2004 2012
dbSNP: rs759412116
rs759412116 		0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.020 1.000 2 2004 2012
dbSNP: rs773632957
rs773632957 		19 45368650 missense variant T/G snv
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2012 2012
dbSNP: rs13181
rs13181 		0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs1799793
rs1799793 		0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3810366
rs3810366 		0.732 0.280 19 45370684 5 prime UTR variant G/C;T snv
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3810366
rs3810366 		0.732 0.280 19 45370684 5 prime UTR variant G/C;T snv
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs13181
rs13181 		0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.100 0.938 32 2001 2019
dbSNP: rs376556895
rs376556895 		0.851 0.400 19 45352801 missense variant C/G;T snv 1.5E-04; 8.0E-06
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.810 1.000 15 1994 2016
dbSNP: rs1799793
rs1799793 		0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.100 0.917 12 2003 2016