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: rs200960801
rs200960801
ESR1
0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.010 1.000 1 2009 2009
dbSNP: rs200960801
rs200960801
ESR1
0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		0.010 1.000 1 2002 2002
dbSNP: rs200960801
rs200960801
ESR1
0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2005 2005
dbSNP: rs200960801
rs200960801
ESR1
0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		0.010 < 0.001 1 2010 2010
dbSNP: rs200960801
rs200960801
ESR1
0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2007 2007
dbSNP: rs200960801
rs200960801
ESR1
0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2005 2005