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: rs4150441
rs4150441 		0.882 0.040 2 127283339 intron variant T/C snv 0.37
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.020 1.000 2 2016 2017
dbSNP: rs4150441
rs4150441 		0.882 0.040 2 127283339 intron variant T/C snv 0.37
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.020 1.000 2 2016 2017
dbSNP: rs4150441
rs4150441 		0.882 0.040 2 127283339 intron variant T/C snv 0.37
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.020 1.000 2 2016 2017
dbSNP: rs1011019
rs1011019 		2 127279984 intron variant A/G;T snv 0.75
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1011019
rs1011019 		2 127279984 intron variant A/G;T snv 0.75
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs121913045
rs121913045 		0.882 0.240 2 127292785 missense variant A/G snv 4.0E-06
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 1999 1999
dbSNP: rs121913045
rs121913045 		0.882 0.240 2 127292785 missense variant A/G snv 4.0E-06
CUI: C4304411
Disease: Xeroderma pigmentosum and Cockayne syndrome complex
Xeroderma pigmentosum and Cockayne syndrome complex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs121913046
rs121913046 		0.882 0.240 2 127292726 missense variant T/G snv
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 1999 1999
dbSNP: rs121913046
rs121913046 		0.882 0.240 2 127292726 missense variant T/G snv
CUI: C4304411
Disease: Xeroderma pigmentosum and Cockayne syndrome complex
Xeroderma pigmentosum and Cockayne syndrome complex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs1232856265
rs1232856265 		0.925 0.240 2 127261248 missense variant C/G;T snv 1.2E-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: rs1232856265
rs1232856265 		0.925 0.240 2 127261248 missense variant C/G;T snv 1.2E-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: rs1566823
rs1566823 		2 127260616 non coding transcript exon variant A/G snv 0.37
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1566823
rs1566823 		2 127260616 non coding transcript exon variant A/G snv 0.37
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs2134794
rs2134794 		2 127273303 intron variant A/C snv 0.20
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3768866
rs3768866 		2 127287839 intron variant G/A snv 0.35
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs3768866
rs3768866 		2 127287839 intron variant G/A snv 0.35
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150402
rs4150402 		2 127292558 3 prime UTR variant T/C snv 0.76
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150402
rs4150402 		2 127292558 3 prime UTR variant T/C snv 0.76
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150403
rs4150403 		0.925 0.040 2 127292492 3 prime UTR variant C/T snv 5.7E-02
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs4150403
rs4150403 		0.925 0.040 2 127292492 3 prime UTR variant C/T snv 5.7E-02
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs4150407
rs4150407 		1.000 0.120 2 127292055 3 prime UTR variant T/C snv 0.47
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150407
rs4150407 		1.000 0.120 2 127292055 3 prime UTR variant T/C snv 0.47
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4150407
rs4150407 		1.000 0.120 2 127292055 3 prime UTR variant T/C snv 0.47
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150416
rs4150416 		2 127288972 intron variant C/A snv 0.66
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs4150441
rs4150441 		0.882 0.040 2 127283339 intron variant T/C snv 0.37
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010