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: 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: 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: rs775235491
rs775235491 		19 45365138 synonymous variant C/A;T snv 8.0E-06; 7.6E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1052555
rs1052555 		0.882 0.040 19 45352266 synonymous variant G/A snv 0.28 0.26
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1052555
rs1052555 		0.882 0.040 19 45352266 synonymous variant G/A snv 0.28 0.26
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 < 0.001 1 2014 2014
dbSNP: rs1052555
rs1052555 		0.882 0.040 19 45352266 synonymous variant G/A snv 0.28 0.26
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1052559
rs1052559 		1.000 0.040 19 45351661 stop gained T/A;G snv
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1052559
rs1052559 		1.000 0.040 19 45351661 stop gained T/A;G snv
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1380228918
rs1380228918 		1.000 0.040 19 45364065 synonymous variant C/T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1380228918
rs1380228918 		1.000 0.040 19 45364065 synonymous variant C/T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1380228918
rs1380228918 		1.000 0.040 19 45364065 synonymous variant C/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs747058891
rs747058891 		1.000 0.040 19 45363889 synonymous variant G/A;C snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs747301897
rs747301897 		1.000 0.040 19 45363999 synonymous variant G/A snv 7.1E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2011 2011
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: rs747301897
rs747301897 		1.000 0.040 19 45363999 synonymous variant G/A snv 7.1E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs756802959
rs756802959 		1.000 0.040 19 45364469 missense variant G/A;C snv 2.8E-05; 8.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs121913018
rs121913018 		1.000 0.080 19 45352226 missense variant C/G snv 2.0E-05 4.2E-05
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 6 1994 2001
dbSNP: rs121913022
rs121913022 		1.000 0.080 19 45352262 missense variant C/G snv 1.4E-05
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 6 1994 2001
dbSNP: rs370454709
rs370454709 		1.000 0.080 19 45364274 missense variant C/T snv 5.6E-05 4.2E-05
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 6 1994 2001
dbSNP: rs770367713
rs770367713 		1.000 0.080 19 45352565 missense variant A/G snv 8.0E-06
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 6 1994 2001
dbSNP: rs1276618779
rs1276618779 		0.925 0.080 19 45364320 missense variant T/C;G snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1276618779
rs1276618779 		0.925 0.080 19 45364320 missense variant T/C;G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs146632315
rs146632315 		0.925 0.080 19 45357502 missense variant C/G;T snv 8.0E-06; 1.9E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs146632315
rs146632315 		0.925 0.080 19 45357502 missense variant C/G;T snv 8.0E-06; 1.9E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1618536
rs1618536 		1.000 0.080 19 45368348 intron variant T/A;C snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014