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: rs1360631927
rs1360631927 		0.851 0.200 19 45369114 missense variant C/T snv 7.0E-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 0.710 1.000 8 1994 2015
dbSNP: rs121913025
rs121913025 		0.925 0.240 19 45357295 missense variant A/G snv
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 0.700 1.000 7 1994 2004
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: rs587778271
rs587778271 		0.925 0.160 19 45353296 frameshift variant AA/- delins 2.0E-04
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 0.700 1.000 3 2001 2016
dbSNP: rs1265794840
rs1265794840 		0.851 0.160 19 45365131 missense variant C/T snv 7.0E-06
CUI: C4744564
Disease: Metastatic Colorectal Carcinoma
Metastatic Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2007 2010
dbSNP: rs50872
rs50872 		0.827 0.120 19 45359191 intron variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2012 2016
dbSNP: rs50872
rs50872 		0.827 0.120 19 45359191 intron variant A/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2012 2016
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: 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: rs1360631927
rs1360631927 		0.851 0.200 19 45369114 missense variant C/T snv 7.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1360631927
rs1360631927 		0.851 0.200 19 45369114 missense variant C/T snv 7.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1360631927
rs1360631927 		0.851 0.200 19 45369114 missense variant C/T snv 7.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
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: 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
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