Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C ×
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: rs74737358
rs74737358 		0.925 0.160 3 14158882 missense variant G/A;T snv 8.1E-06; 2.6E-03
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 1 2008 2008
dbSNP: rs121965088
rs121965088 		1.000 0.160 3 14158148 stop gained G/A snv 1.2E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 2000 2015
dbSNP: rs754532049
rs754532049 		0.925 0.160 3 14158239 frameshift variant CA/- delins 2.0E-05 3.5E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 2008 2010
dbSNP: rs745679643
rs745679643 		1.000 0.160 3 14165549 stop gained G/A snv 2.0E-05 1.4E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 2000 2015
dbSNP: rs752088918
rs752088918 		0.925 0.160 3 14167223 frameshift variant AT/- delins 2.4E-05 2.1E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 2000 2006
dbSNP: rs754775337
rs754775337 		1.000 0.160 3 14148912 stop gained G/A snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 2000 2015
dbSNP: rs757958943
rs757958943 		0.925 0.160 3 14158640 stop gained G/A snv 1.2E-05 4.9E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 2010 2016
dbSNP: rs1330667099
rs1330667099 		1.000 0.160 3 14168370 frameshift variant CACT/- delins
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2006 2016
dbSNP: rs1402162002
rs1402162002 		1.000 0.160 3 14168347 frameshift variant TC/- delins 1.2E-05 7.0E-06
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2007 2016
dbSNP: rs1553604559
rs1553604559 		1.000 0.160 3 14148695 frameshift variant G/- delins
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2010 2015
dbSNP: rs201940931
rs201940931 		1.000 0.160 3 14165587 splice acceptor variant T/C;G snv 4.0E-06; 1.2E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2006 2007
dbSNP: rs373519125
rs373519125 		1.000 0.160 3 14164836 stop gained G/A;T snv 1.6E-05; 1.6E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2016 2017
dbSNP: rs374117852
rs374117852 		0.925 0.160 3 14152376 stop gained T/A snv 3.5E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2006 2013
dbSNP: rs746250060
rs746250060 		1.000 0.160 3 14158319 stop gained T/A;C snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2006 2015
dbSNP: rs767569346
rs767569346 		1.000 0.160 3 14158206 stop gained G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2013 2015
dbSNP: rs794729654
rs794729654 		1.000 0.160 3 14158590 frameshift variant TT/- delins
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2006 2016
dbSNP: rs1228981894
rs1228981894 		1.000 0.160 3 14170507 frameshift variant CT/- delins 4.0E-06 7.0E-06
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		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: rs1260189637
rs1260189637 		1.000 0.160 3 14173038 frameshift variant G/- delins 1.4E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2000 2000
dbSNP: rs1450238352
rs1450238352 		1.000 0.160 3 14158779 frameshift variant TT/- del 2.1E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1553605761
rs1553605761 		1.000 0.160 3 14158461 frameshift variant -/T delins
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		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: rs754673606
rs754673606 		0.925 0.160 3 14148732 splice acceptor variant C/G;T snv 2.4E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2011 2011
dbSNP: rs763678756
rs763678756 		1.000 0.160 3 14178568 start lost T/A;C snv 4.0E-06; 5.2E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2009 2009
dbSNP: rs764321665
rs764321665 		1.000 0.160 3 14165468 stop gained G/A snv 1.4E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		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: rs975121308
rs975121308 		1.000 0.160 3 14165427 splice donor variant C/A;T snv 7.0E-06
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		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: rs1208223013
rs1208223013 		1.000 0.160 3 14170440 frameshift variant -/C delins 4.0E-06
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0