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: rs2228480
rs2228480
ESR1
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 0.833 6 2010 2016
dbSNP: rs2228480
rs2228480
ESR1
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.050 0.800 5 2010 2016
dbSNP: rs2228480
rs2228480
ESR1
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2010 2010
dbSNP: rs2228480
rs2228480
ESR1
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2010 2010
dbSNP: rs2228480
rs2228480
ESR1
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.010 1.000 1 2010 2010
dbSNP: rs2228480
rs2228480
ESR1
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse 		0.010 1.000 1 2014 2014
dbSNP: rs2228480
rs2228480
ESR1
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs2228480
rs2228480
ESR1
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs2228480
rs2228480
ESR1
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2009 2009
dbSNP: rs2228480
rs2228480
ESR1
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2008 2008
dbSNP: rs2228480
rs2228480
ESR1
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2010 2010
dbSNP: rs2228480
rs2228480
ESR1
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 1.000 1 2014 2014
dbSNP: rs2228480
rs2228480
ESR1
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2010 2010
dbSNP: rs2228480
rs2228480
ESR1
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 < 0.001 1 2017 2017
dbSNP: rs2228480
rs2228480
ESR1
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 1.000 1 2010 2010
dbSNP: rs2228480
rs2228480
ESR1
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2010 2010