ESR2, estrogen receptor 2, 2100

N. diseases: 528; N. variants: 56
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: rs1256061
rs1256061 		14 64236875 intron variant G/A;T snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 2 2016 2019
dbSNP: rs10459452
rs10459452 		14 64245143 intron variant A/G snv 4.4E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11850375
rs11850375 		14 64244659 intron variant C/T snv 4.4E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11850375
rs11850375 		14 64244659 intron variant C/T snv 4.4E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12435857
rs12435857 		0.925 0.200 14 64256807 intron variant G/A snv 0.41
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1255998
rs1255998 		0.827 0.200 14 64227153 3 prime UTR variant G/C;T snv
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		0.010 1.000 1 2010 2010
dbSNP: rs1256030
rs1256030 		0.827 0.240 14 64280452 intron variant A/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1256031
rs1256031 		0.790 0.200 14 64279461 intron variant G/A;T snv 0.57
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1256033
rs1256033 		14 64278681 intron variant T/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1256061
rs1256061 		14 64236875 intron variant G/A;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1256061
rs1256061 		14 64236875 intron variant G/A;T snv
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs1256061
rs1256061 		14 64236875 intron variant G/A;T snv
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016
dbSNP: rs148114281
rs148114281 		14 64160241 intron variant C/T snv 1.6E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs2772163
rs2772163 		14 64226667 intron variant G/A snv 0.25
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2978381
rs2978381 		0.925 0.160 14 64299934 intron variant T/C snv 0.53
CUI: C0919568
Disease: Impatience
Impatience 		0.010 < 0.001 1 2016 2016
dbSNP: rs36215895
rs36215895 		1.000 14 64210033 missense variant C/G;T snv 4.0E-06; 4.8E-03
CUI: C2751805
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT 		0.800 1.000 1 2007 2007
dbSNP: rs4365213
rs4365213 		1.000 0.080 14 64253546 intron variant T/C snv 0.41
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs745516407
rs745516407 		1.000 14 64107608 splice donor variant G/A;T snv 4.0E-06 7.0E-06
CUI: C2751805
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs4986938
rs4986938 		0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.020 1.000 2 2011 2018
dbSNP: rs4986938
rs4986938 		0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.020 1.000 2 2011 2018
dbSNP: rs1256049
rs1256049 		0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
dbSNP: rs1256049
rs1256049 		0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
dbSNP: rs7146434
rs7146434 		1.000 0.040 14 64259785 intron variant A/G snv 0.41
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1256031
rs1256031 		0.790 0.200 14 64279461 intron variant G/A;T snv 0.57
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1256049
rs1256049 		0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2008 2008