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: rs700519
rs700519
CYP19A1 ; MIR4713HG
0.752 0.280 15 51215771 missense variant G/A snv 7.6E-02 8.0E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.070 0.714 7 2003 2016
dbSNP: rs700519
rs700519
CYP19A1 ; MIR4713HG
0.752 0.280 15 51215771 missense variant G/A snv 7.6E-02 8.0E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.070 0.714 7 2003 2016
dbSNP: rs700519
rs700519
CYP19A1 ; MIR4713HG
0.752 0.280 15 51215771 missense variant G/A snv 7.6E-02 8.0E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.020 1.000 2 2011 2017
dbSNP: rs700519
rs700519
CYP19A1 ; MIR4713HG
0.752 0.280 15 51215771 missense variant G/A snv 7.6E-02 8.0E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 1.000 2 2016 2018
dbSNP: rs700519
rs700519
CYP19A1 ; MIR4713HG
0.752 0.280 15 51215771 missense variant G/A snv 7.6E-02 8.0E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 1.000 2 2016 2018
dbSNP: rs700519
rs700519
CYP19A1 ; MIR4713HG
0.752 0.280 15 51215771 missense variant G/A snv 7.6E-02 8.0E-02
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.020 1.000 2 2005 2012
dbSNP: rs700519
rs700519
CYP19A1 ; MIR4713HG
0.752 0.280 15 51215771 missense variant G/A snv 7.6E-02 8.0E-02
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 1.000 1 2007 2007
dbSNP: rs700519
rs700519
CYP19A1 ; MIR4713HG
0.752 0.280 15 51215771 missense variant G/A snv 7.6E-02 8.0E-02
CUI: C0017411
Disease: Female Genital Diseases
Female Genital Diseases 		0.010 1.000 1 2006 2006
dbSNP: rs700519
rs700519
CYP19A1 ; MIR4713HG
0.752 0.280 15 51215771 missense variant G/A snv 7.6E-02 8.0E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 < 0.001 1 2019 2019
dbSNP: rs700519
rs700519
CYP19A1 ; MIR4713HG
0.752 0.280 15 51215771 missense variant G/A snv 7.6E-02 8.0E-02
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer 		0.010 1.000 1 2011 2011
dbSNP: rs700519
rs700519
CYP19A1 ; MIR4713HG
0.752 0.280 15 51215771 missense variant G/A snv 7.6E-02 8.0E-02
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2007 2007