DDB2, damage specific DNA binding protein 2, 1643

N. diseases: 118; N. variants: 13
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E ×
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: rs121434640
rs121434640 		1.000 0.160 11 47234872 missense variant G/A snv 2.0E-05 2.1E-05
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 1 1996 1996
dbSNP: rs121434639
rs121434639 		1.000 0.160 11 47234784 missense variant A/G snv
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 < 0.001 1 2014 2014
dbSNP: rs121434641
rs121434641 		1.000 0.160 11 47235326 stop gained C/T snv
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121434642
rs121434642 		1.000 0.160 11 47235308 missense variant G/T snv
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1281033732
rs1281033732 		1.000 0.160 11 47237862 missense variant T/C snv
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2000 2000