Source: BEFREE

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: rs10269151
rs10269151
GPER1 ; C7orf50
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 		0.010 1.000 1 2012 2012
dbSNP: rs11544331
rs11544331
GPER1 ; C7orf50
0.925 0.080 7 1091775 missense variant C/T snv 0.21 0.19
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2010 2010
dbSNP: rs11544331
rs11544331
GPER1 ; C7orf50
0.925 0.080 7 1091775 missense variant C/T snv 0.21 0.19
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2010 2010
dbSNP: rs11544331
rs11544331
GPER1 ; C7orf50
0.925 0.080 7 1091775 missense variant C/T snv 0.21 0.19
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2014 2014
dbSNP: rs11544331
rs11544331
GPER1 ; C7orf50
0.925 0.080 7 1091775 missense variant C/T snv 0.21 0.19
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs11544331
rs11544331
GPER1 ; C7orf50
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 		0.010 1.000 1 2017 2017
dbSNP: rs11763020
rs11763020
C7orf50
1.000 0.040 7 1020652 intron variant C/T snv 0.12
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		0.010 1.000 1 2011 2011
dbSNP: rs3735684
rs3735684
CYP2W1 ; C7orf50
0.851 0.120 7 985219 missense variant G/A snv 6.8E-02 7.3E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs3735684
rs3735684
CYP2W1 ; C7orf50
0.851 0.120 7 985219 missense variant G/A snv 6.8E-02 7.3E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2012 2012
dbSNP: rs3735684
rs3735684
CYP2W1 ; C7orf50
0.851 0.120 7 985219 missense variant G/A snv 6.8E-02 7.3E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2010 2010
dbSNP: rs3735684
rs3735684
CYP2W1 ; C7orf50
0.851 0.120 7 985219 missense variant G/A snv 6.8E-02 7.3E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2012 2012
dbSNP: rs3802141
rs3802141
GPER1 ; C7orf50
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 		0.010 1.000 1 2019 2019
dbSNP: rs3808348
rs3808348
CYP2W1 ; C7orf50
0.925 0.080 7 988812 missense variant C/T snv 0.21 0.17
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 < 0.001 1 2010 2010
dbSNP: rs3808348
rs3808348
CYP2W1 ; C7orf50
0.925 0.080 7 988812 missense variant C/T snv 0.21 0.17
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 < 0.001 1 2010 2010
dbSNP: rs3808350
rs3808350
GPER1 ; C7orf50
0.882 0.080 7 1086257 intron variant A/G;T snv
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		0.010 1.000 1 2015 2015
dbSNP: rs3808350
rs3808350
GPER1 ; C7orf50
0.882 0.080 7 1086257 intron variant A/G;T snv
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor 		0.010 1.000 1 2016 2016
dbSNP: rs3808350
rs3808350
GPER1 ; C7orf50
0.882 0.080 7 1086257 intron variant A/G;T snv
CUI: C0036631
Disease: Seminoma
Seminoma 		0.010 1.000 1 2014 2014
dbSNP: rs3808350
rs3808350
GPER1 ; C7orf50
0.882 0.080 7 1086257 intron variant A/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2010 2010
dbSNP: rs3808350
rs3808350
GPER1 ; C7orf50
0.882 0.080 7 1086257 intron variant A/G;T snv
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.010 1.000 1 2016 2016
dbSNP: rs3808350
rs3808350
GPER1 ; C7orf50
0.882 0.080 7 1086257 intron variant A/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2010 2010
dbSNP: rs3808351
rs3808351
GPER1 ; C7orf50
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
GPER1 ; C7orf50
0.827 0.240 7 1087023 5 prime UTR variant G/A snv 0.29
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor 		0.010 1.000 1 2016 2016
dbSNP: rs3808351
rs3808351
GPER1 ; C7orf50
0.827 0.240 7 1087023 5 prime UTR variant G/A snv 0.29
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		0.010 1.000 1 2015 2015
dbSNP: rs3808351
rs3808351
GPER1 ; C7orf50
0.827 0.240 7 1087023 5 prime UTR variant G/A snv 0.29
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2010 2010
dbSNP: rs3808351
rs3808351
GPER1 ; C7orf50
0.827 0.240 7 1087023 5 prime UTR variant G/A snv 0.29
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.010 1.000 1 2016 2016