GPER1, G protein-coupled estrogen receptor 1, 2852

N. diseases: 180; N. variants: 6
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: rs10269151
rs10269151 		1.000 0.160 7 1087240 5 prime UTR variant G/A snv 4.6E-02
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs11544331
rs11544331 		0.925 0.080 7 1091775 missense variant C/T snv 0.21 0.19
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs11544331
rs11544331 		0.925 0.080 7 1091775 missense variant C/T snv 0.21 0.19
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs11544331
rs11544331 		0.925 0.080 7 1091775 missense variant C/T snv 0.21 0.19
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11544331
rs11544331 		0.925 0.080 7 1091775 missense variant C/T snv 0.21 0.19
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs11544331
rs11544331 		0.925 0.080 7 1091775 missense variant C/T snv 0.21 0.19
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3802141
rs3802141 		1.000 0.040 7 1091720 5 prime UTR variant T/A;C snv 5.5E-06; 0.62
CUI: C0341858
Disease: Endometriosis of uterus
Endometriosis of uterus 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2019 2019
dbSNP: rs3808350
rs3808350 		0.882 0.080 7 1086257 intron variant A/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs3808350
rs3808350 		0.882 0.080 7 1086257 intron variant A/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs3808350
rs3808350 		0.882 0.080 7 1086257 intron variant A/G;T snv
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs3808350
rs3808350 		0.882 0.080 7 1086257 intron variant A/G;T snv
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs3808350
rs3808350 		0.882 0.080 7 1086257 intron variant A/G;T snv
CUI: C0036631
Disease: Seminoma
Seminoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs3808350
rs3808350 		0.882 0.080 7 1086257 intron variant A/G;T snv
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3808351
rs3808351 		0.827 0.240 7 1087023 5 prime UTR variant G/A snv 0.29
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs3808351
rs3808351 		0.827 0.240 7 1087023 5 prime UTR variant G/A snv 0.29
CUI: C0036631
Disease: Seminoma
Seminoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs3808351
rs3808351 		0.827 0.240 7 1087023 5 prime UTR variant G/A snv 0.29
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs3808351
rs3808351 		0.827 0.240 7 1087023 5 prime UTR variant G/A snv 0.29
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3808351
rs3808351 		0.827 0.240 7 1087023 5 prime UTR variant G/A snv 0.29
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3808351
rs3808351 		0.827 0.240 7 1087023 5 prime UTR variant G/A snv 0.29
CUI: C0349528
Disease: Solitary leiomyoma
Solitary leiomyoma 		0.010 1.000 1 2016 2016
dbSNP: rs3808351
rs3808351 		0.827 0.240 7 1087023 5 prime UTR variant G/A snv 0.29
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs4266553
rs4266553 		1.000 0.040 7 1093035 missense variant C/G;T snv 0.11; 6.7E-05
CUI: C0341858
Disease: Endometriosis of uterus
Endometriosis of uterus 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2019 2019