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: rs121913049
rs121913049 		0.851 0.240 16 13947991 missense variant C/G;T snv 4.8E-04
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 1996 2011
dbSNP: rs121913049
rs121913049 		0.851 0.240 16 13947991 missense variant C/G;T snv 4.8E-04
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.020 1.000 2 2010 2019
dbSNP: rs121913049
rs121913049 		0.851 0.240 16 13947991 missense variant C/G;T snv 4.8E-04
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs121913049
rs121913049 		0.851 0.240 16 13947991 missense variant C/G;T snv 4.8E-04
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121913050
rs121913050 		0.882 0.240 16 13926630 missense variant G/A;C;T snv 2.4E-05; 4.0E-06; 4.0E-06
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 2010 2010
dbSNP: rs121913050
rs121913050 		0.882 0.240 16 13926630 missense variant G/A;C;T snv 2.4E-05; 4.0E-06; 4.0E-06
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs121913050
rs121913050 		0.882 0.240 16 13926630 missense variant G/A;C;T snv 2.4E-05; 4.0E-06; 4.0E-06
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 0
dbSNP: rs1451008479
rs1451008479 		1.000 16 13947953 missense variant C/T snv 4.0E-06
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		0.700 1.000 2 2013 2013
dbSNP: rs147105770
rs147105770 		0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 7 2010 2018
dbSNP: rs147105770
rs147105770 		0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		0.700 1.000 6 2010 2016
dbSNP: rs147105770
rs147105770 		0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 6 2010 2016
dbSNP: rs147105770
rs147105770 		0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs147105770
rs147105770 		0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-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 2018 2018
dbSNP: rs147105770
rs147105770 		0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs147105770
rs147105770 		0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05
CUI: C3806565
Disease: XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME 		0.700 0
dbSNP: rs147105770
rs147105770 		0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs149364215
rs149364215 		1.000 16 13947661 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		0.700 0
dbSNP: rs1555468482
rs1555468482 		0.882 0.240 16 13935663 frameshift variant C/- del
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1555468482
rs1555468482 		0.882 0.240 16 13935663 frameshift variant C/- del
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		0.700 1.000 1 2013 2013
dbSNP: rs1555468482
rs1555468482 		0.882 0.240 16 13935663 frameshift variant C/- del
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1799798
rs1799798 		1.000 0.160 16 13920421 intron variant G/A snv 0.12 7.7E-02
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs1799801
rs1799801 		0.807 0.360 16 13948101 synonymous variant T/C snv 0.27 0.25
CUI: C0280313
Disease: Squamous cell carcinoma of oropharynx
Squamous cell carcinoma of oropharynx 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1799801
rs1799801 		0.807 0.360 16 13948101 synonymous variant T/C snv 0.27 0.25
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1799801
rs1799801 		0.807 0.360 16 13948101 synonymous variant T/C snv 0.27 0.25
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs1799801
rs1799801 		0.807 0.360 16 13948101 synonymous variant T/C snv 0.27 0.25
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016