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: 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: rs121913016
rs121913016 		0.827 0.160 19 45357368 missense variant G/C snv 1.2E-03 4.4E-04
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121913016
rs121913016 		0.827 0.160 19 45357368 missense variant G/C snv 1.2E-03 4.4E-04
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 1996 1996
dbSNP: rs121913016
rs121913016 		0.827 0.160 19 45357368 missense variant G/C snv 1.2E-03 4.4E-04
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121913019
rs121913019 		0.925 0.240 19 45354774 missense variant T/C;G snv 4.0E-06
CUI: C0037285
Disease: Skin Manifestations
Skin Manifestations 		Pathological Conditions, Signs and Symptoms 0.010 < 0.001 1 2016 2016
dbSNP: rs121913020
rs121913020 		0.882 0.160 19 45368655 missense variant C/T snv 2.0E-05 6.3E-05
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs121913021
rs121913021 		0.882 0.160 19 45352580 missense variant G/A snv 2.8E-05 4.2E-05
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 1996 1996
dbSNP: rs121913021
rs121913021 		0.882 0.160 19 45352580 missense variant G/A snv 2.8E-05 4.2E-05
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 0.010 1.000 1 1996 1996
dbSNP: rs121913023
rs121913023 		0.851 0.400 19 45352511 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2001 2001
dbSNP: rs121913023
rs121913023 		0.851 0.400 19 45352511 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs121913024
rs121913024 		0.851 0.400 19 45352802 missense variant G/A snv 5.6E-05 3.5E-05
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs121913024
rs121913024 		0.851 0.400 19 45352802 missense variant G/A snv 5.6E-05 3.5E-05
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1226085679
rs1226085679 		0.882 0.120 19 45351663 missense variant A/T snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1226085679
rs1226085679 		0.882 0.120 19 45351663 missense variant A/T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1226085679
rs1226085679 		0.882 0.120 19 45351663 missense variant A/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1265794840
rs1265794840 		0.851 0.160 19 45365131 missense variant C/T snv 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1265794840
rs1265794840 		0.851 0.160 19 45365131 missense variant C/T snv 7.0E-06
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1265794840
rs1265794840 		0.851 0.160 19 45365131 missense variant C/T snv 7.0E-06
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1265794840
rs1265794840 		0.851 0.160 19 45365131 missense variant C/T snv 7.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1265794840
rs1265794840 		0.851 0.160 19 45365131 missense variant C/T snv 7.0E-06
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2009 2009
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