ERCC5, ERCC excision repair 5, endonuclease, 2073

N. diseases: 238; N. variants: 38
Disease: Xeroderma pigmentosum, group G ×
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: rs121434575
rs121434575 		0.925 0.240 13 102868152 missense variant T/C snv
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 7 1994 2013
dbSNP: rs267607280
rs267607280 		1.000 0.160 13 102873283 missense variant G/C snv
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 7 1994 2013
dbSNP: rs267607281
rs267607281 		1.000 0.160 13 102846349 missense variant C/A snv
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 7 1994 2013
dbSNP: rs121434576
rs121434576 		1.000 0.160 13 102868199 missense variant G/A snv 2.4E-05 3.5E-05
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 7 1994 2013
dbSNP: rs121434571
rs121434571 		1.000 0.160 13 102866687 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 7 1994 2013
dbSNP: rs121434574
rs121434574 		0.925 0.240 13 102852244 missense variant C/A;T snv 4.0E-06
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 7 1994 2013
dbSNP: rs9514067
rs9514067 		1.000 0.160 13 102875580 stop gained G/C;T snv 1.00; 1.3E-04
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2004 2004
dbSNP: rs121434570
rs121434570 		0.925 0.160 13 102872397 stop gained G/A;T snv 8.0E-06; 8.0E-06
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121434577
rs121434577 		1.000 0.160 13 102854313 stop gained C/G;T snv
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1244074570
rs1244074570 		1.000 0.160 13 102866665 stop gained C/G;T snv 4.0E-06
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs752661599
rs752661599 		1.000 0.160 13 102872262 frameshift variant A/-;AA delins
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs786200919
rs786200919 		1.000 0.160 13 102862263 frameshift variant GGAA/- delins
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs786200920
rs786200920 		1.000 0.160 13 102862640 frameshift variant A/- delins
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.050 0.800 5 2016 2018
dbSNP: rs17655
rs17655 		0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.040 1.000 4 2014 2019
dbSNP: rs2296147
rs2296147 		0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.040 1.000 4 2016 2017
dbSNP: rs751402
rs751402 		0.724 0.360 13 102845848 5 prime UTR variant A/G snv 0.76
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.040 0.750 4 2016 2018
dbSNP: rs873601
rs873601 		0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2017
dbSNP: rs1047768
rs1047768 		0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2227869
rs2227869 		0.790 0.240 13 102862735 missense variant G/A;C snv 4.3E-02
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4150351
rs4150351 		0.925 0.160 13 102870617 intron variant A/C;T snv
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs929424117
rs929424117 		0.925 0.160 13 102866645 missense variant T/C snv 4.0E-06
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019