R3HDM2, R3H domain containing 2, 22864

N. diseases: 24; N. variants: 17
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: rs1106766
rs1106766
0.882 0.120 12 57415673 intron variant C/T snv 0.19
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: rs11172147
rs11172147
0.925 0.120 12 57302894 intron variant G/A snv 0.19
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: rs11609805
rs11609805
0.925 0.120 12 57341262 5 prime UTR variant G/A;C;T 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: rs11613352
rs11613352
0.827 0.160 12 57398797 intron variant C/T snv 0.19
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: rs11614506
rs11614506
0.925 0.120 12 57421892 intron variant T/C snv 0.16
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: rs4760254
rs4760254
0.925 0.120 12 57372609 intron variant G/A;C;T 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: rs4760278
rs4760278
0.925 0.120 12 57377370 intron variant C/A snv 0.16
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: rs4760355
rs4760355
0.925 0.120 12 57331414 intron variant G/A snv 0.20
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: rs7964492
rs7964492
0.925 0.120 12 57429802 intron variant A/C snv 0.19
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