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: rs1152591
rs1152591
1.000 0.080 14 64214130 intron variant A/C;G;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.800 1.000 2 2012 2017
dbSNP: rs36215895
rs36215895
1.000 14 64210033 missense variant C/G;T snv 4.0E-06; 4.8E-03
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
0.800 1.000 1 2007 2007
dbSNP: rs58262369
rs58262369
0.925 0.080 14 64227194 3 prime UTR variant C/T snv 2.4E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.710 1.000 1 2015 2015
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: rs2738413
rs2738413
1.000 0.080 14 64213242 intron variant A/G snv 0.63
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 2 2018 2018
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: rs1152578
rs1152578
1.000 0.040 14 64230319 intron variant T/A;C snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs11850375
rs11850375
14 64244659 intron variant C/T snv 4.4E-02
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
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs1256030
rs1256030
0.827 0.240 14 64280452 intron variant A/G;T snv
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
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs1256033
rs1256033
14 64278681 intron variant T/A;C snv
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs1256061
rs1256061
14 64236875 intron variant G/A;T snv
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
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: rs2781377
rs2781377
1.000 0.040 14 64093374 stop gained G/A snv 8.5E-02 8.9E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4365213
rs4365213
1.000 0.080 14 64253546 intron variant T/C snv 0.41
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs7146434
rs7146434
1.000 0.040 14 64259785 intron variant A/G snv 0.41
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.700 1.000 1 2019 2019
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: rs915057
rs915057
1.000 0.040 14 64219489 intron variant A/G;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs745516407
rs745516407
1.000 14 64107608 splice donor variant G/A;T snv 4.0E-06 7.0E-06
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
0.700 0
dbSNP: rs1256049
rs1256049
0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.040 0.500 4 2005 2018