NRBP1, nuclear receptor binding protein 1, 29959

N. diseases: 17; N. variants: 7
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: rs1260341
rs1260341 		0.925 0.120 2 27440348 non coding transcript exon variant T/A;G snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs1260341
rs1260341 		0.925 0.120 2 27440348 non coding transcript exon variant T/A;G snv
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs1260342
rs1260342 		0.925 0.120 2 27440549 non coding transcript exon variant G/T snv 0.42 0.47
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs1260342
rs1260342 		0.925 0.120 2 27440549 non coding transcript exon variant G/T snv 0.42 0.47
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs4665978
rs4665978 		0.925 0.120 2 27425859 upstream gene variant T/C snv 0.55
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs4665978
rs4665978 		0.925 0.120 2 27425859 upstream gene variant T/C snv 0.55
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs704791
rs704791 		0.925 0.120 2 27434300 intron variant T/C snv 0.47
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs704791
rs704791 		0.925 0.120 2 27434300 intron variant T/C snv 0.47
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs780100
rs780100 		0.925 0.120 2 27429286 5 prime UTR variant G/T snv 0.47
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs780100
rs780100 		0.925 0.120 2 27429286 5 prime UTR variant G/T snv 0.47
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs780102
rs780102 		0.925 0.120 2 27436624 non coding transcript exon variant T/C snv 0.47
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs780102
rs780102 		0.925 0.120 2 27436624 non coding transcript exon variant T/C snv 0.47
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs753734841
rs753734841 		1.000 0.040 2 27440906 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C1335167
Disease: Ovarian Mucinous Adenocarcinoma
Ovarian Mucinous Adenocarcinoma 		Neoplasms 0.700 0