ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
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: rs2234693
rs2234693
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.020 1.000 2 2009 2018
dbSNP: rs1884051
rs1884051
0.882 0.080 6 151962144 intron variant G/A snv 0.60
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs6902771
rs6902771
1.000 0.040 6 151836746 intron variant C/T snv 0.45
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs7774230
rs7774230
1.000 0.040 6 151843104 intron variant C/T snv 0.47
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs9340799
rs9340799
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009