ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Disease: Alzheimer's Disease ×
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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.040 1.000 4 2008 2014
dbSNP: rs9340799
rs9340799 		0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.030 1.000 3 2014 2014
dbSNP: rs1206642175
rs1206642175 		0.925 0.080 6 151808263 synonymous variant G/A snv 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs2077647
rs2077647 		0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs7450824
rs7450824 		1.000 0.080 6 152116968 intron variant T/C snv 0.19
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011