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: rs2303369
rs2303369
0.925 0.120 2 27492549 intron variant C/T snv 0.38
CUI: C1629609
Disease: Age at menopause
Age at menopause
0.800 1.000 1 2012 2012
dbSNP: rs2303369
rs2303369
0.925 0.120 2 27492549 intron variant C/T snv 0.38
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: rs2303369
rs2303369
0.925 0.120 2 27492549 intron variant C/T snv 0.38
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: rs704795
rs704795
0.925 0.120 2 27493627 intron variant G/A snv 0.46
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: rs704795
rs704795
0.925 0.120 2 27493627 intron variant G/A snv 0.46
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: rs704795
rs704795
0.925 0.120 2 27493627 intron variant G/A snv 0.46
CUI: C1629609
Disease: Age at menopause
Age at menopause
0.700 1.000 1 2015 2015
dbSNP: rs780088
rs780088
2 27493137 intron variant T/C snv 0.46
CUI: C1629609
Disease: Age at menopause
Age at menopause
0.700 1.000 1 2019 2019
dbSNP: rs780090
rs780090
0.925 0.120 2 27495607 upstream gene variant T/C;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 1 2013 2013
dbSNP: rs780090
rs780090
0.925 0.120 2 27495607 upstream gene variant T/C;G snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs780090
rs780090
0.925 0.120 2 27495607 upstream gene variant T/C;G snv
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs780090
rs780090
0.925 0.120 2 27495607 upstream gene variant T/C;G snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs8395
rs8395
0.925 0.120 2 27492340 3 prime UTR variant T/A snv 0.42
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs8395
rs8395
0.925 0.120 2 27492340 3 prime UTR variant T/A snv 0.42
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013