Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1033182
rs1033182
ESR1
0.882 0.160 6 151873899 intron variant G/A snv 0.26
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2007 2007
dbSNP: rs1033182
rs1033182
ESR1
0.882 0.160 6 151873899 intron variant G/A snv 0.26
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.010 1.000 1 2007 2007
dbSNP: rs1033182
rs1033182
ESR1
0.882 0.160 6 151873899 intron variant G/A snv 0.26
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.010 1.000 1 2007 2007
dbSNP: rs1057519715
rs1057519715
ESR1
1.000 0.080 6 152098779 missense variant T/A snv
CUI: C0346993
Disease: Secondary malignant neoplasm of female breast
Secondary malignant neoplasm of female breast 		0.010 1.000 1 2019 2019
dbSNP: rs1057519827
rs1057519827
ESR1
6 152011697 missense variant G/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs1062577
rs1062577
ESR1
0.882 0.080 6 152102770 3 prime UTR variant T/A;G snv
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		0.010 1.000 1 2013 2013
dbSNP: rs1062577
rs1062577
ESR1
0.882 0.080 6 152102770 3 prime UTR variant T/A;G snv
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.010 1.000 1 2013 2013
dbSNP: rs11155819
rs11155819
ESR1
1.000 0.040 6 151878224 intron variant T/C snv 0.25
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 1.000 1 2018 2018
dbSNP: rs1159327
rs1159327
ESR1
1.000 0.040 6 151726887 intron variant C/T snv 0.32
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 1.000 1 2013 2013
dbSNP: rs1182554992
rs1182554992
ESR1
6 151880688 missense variant A/G snv 8.0E-06
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.010 < 0.001 1 2006 2006
dbSNP: rs1206642175
rs1206642175
ESR1
0.925 0.080 6 151808263 synonymous variant G/A snv 7.0E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 1.000 1 2008 2008
dbSNP: rs1206642175
rs1206642175
ESR1
0.925 0.080 6 151808263 synonymous variant G/A snv 7.0E-06
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.010 1.000 1 2008 2008
dbSNP: rs1206642175
rs1206642175
ESR1
0.925 0.080 6 151808263 synonymous variant G/A snv 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2008 2008
dbSNP: rs1207112399
rs1207112399
ESR1
0.925 0.080 6 151842614 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2014 2014
dbSNP: rs1207112399
rs1207112399
ESR1
0.925 0.080 6 151842614 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1207112399
rs1207112399
ESR1
0.925 0.080 6 151842614 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2014 2014
dbSNP: rs12154178
rs12154178
ESR1
0.925 0.040 6 151929945 intron variant C/A snv 0.59
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.010 1.000 1 2019 2019
dbSNP: rs12154178
rs12154178
ESR1
0.925 0.040 6 151929945 intron variant C/A snv 0.59
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.010 1.000 1 2019 2019
dbSNP: rs12525163
rs12525163
ESR1
0.925 0.080 6 151719156 intron variant T/C snv 0.27
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2014 2014
dbSNP: rs12525163
rs12525163
ESR1
0.925 0.080 6 151719156 intron variant T/C snv 0.27
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1321402467
rs1321402467
ESR1
0.925 0.080 6 151808327 missense variant T/C snv
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 1.000 1 2018 2018
dbSNP: rs1321402467
rs1321402467
ESR1
0.925 0.080 6 151808327 missense variant T/C snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 1.000 1 2018 2018
dbSNP: rs1364963022
rs1364963022
ESR1
0.925 0.080 6 151944233 missense variant G/C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2006 2006
dbSNP: rs1364963022
rs1364963022
ESR1
0.925 0.080 6 151944233 missense variant G/C snv 4.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2006 2006
dbSNP: rs1364963022
rs1364963022
ESR1
0.925 0.080 6 151944233 missense variant G/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2006 2006