Disease: Xeroderma Pigmentosum ×
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: rs13181
rs13181 		0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
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 2006 2018
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: 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: rs41556519
rs41556519 		0.807 0.400 19 45352352 missense variant G/A snv 6.0E-05 2.8E-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 2009 2009
dbSNP: rs759412116
rs759412116 		0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-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 2006 2006