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: rs200075329
rs200075329
ESR1
0.925 0.080 6 151808264 missense variant T/C snv 4.4E-03 4.3E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2019 2019
dbSNP: rs200075329
rs200075329
ESR1
0.925 0.080 6 151808264 missense variant T/C snv 4.4E-03 4.3E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs200075329
rs200075329
ESR1
0.925 0.080 6 151808264 missense variant T/C snv 4.4E-03 4.3E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 < 0.001 1 2019 2019
dbSNP: rs200075329
rs200075329
ESR1
0.925 0.080 6 151808264 missense variant T/C snv 4.4E-03 4.3E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2019 2019