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: rs776705174
rs776705174 		1.000 0.160 19 45357267 splice donor variant -/A delins 4.0E-06; 1.6E-05 2.1E-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 0.700 1.000 1 1994 1994
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: 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: rs121913025
rs121913025 		0.925 0.240 19 45357295 missense variant A/G snv
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 0.700 0
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: 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: rs50872
rs50872 		0.827 0.120 19 45359191 intron variant A/G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
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: 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: 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: rs171140
rs171140 		0.807 0.080 19 45361744 non coding transcript exon variant C/A snv 0.58 0.64
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs171140
rs171140 		0.807 0.080 19 45361744 non coding transcript exon variant C/A snv 0.58 0.64
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs171140
rs171140 		0.807 0.080 19 45361744 non coding transcript exon variant C/A snv 0.58 0.64
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs171140
rs171140 		0.807 0.080 19 45361744 non coding transcript exon variant C/A snv 0.58 0.64
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs171140
rs171140 		0.807 0.080 19 45361744 non coding transcript exon variant C/A snv 0.58 0.64
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs171140
rs171140 		0.807 0.080 19 45361744 non coding transcript exon variant C/A snv 0.58 0.64
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs50871
rs50871 		0.925 0.120 19 45359257 intron variant C/A snv 0.64
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs50871
rs50871 		0.925 0.120 19 45359257 intron variant C/A snv 0.64
CUI: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1568546120
rs1568546120 		1.000 0.160 19 45368993 splice acceptor variant C/A 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 0
dbSNP: rs1568546120
rs1568546120 		1.000 0.160 19 45368993 splice acceptor variant C/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1568546252
rs1568546252 		1.000 0.160 19 45369132 stop gained C/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0