ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Disease: Malignant Neoplasms ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1801132
rs1801132 		0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2010 2015
dbSNP: rs2077647
rs2077647 		0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2010 2015
dbSNP: rs2234693
rs2234693 		0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2010 2018
dbSNP: rs796065354
rs796065354 		0.882 0.080 6 151944320 missense variant A/G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 0.500 2 2005 2010
dbSNP: rs149308960
rs149308960 		0.925 0.080 6 151842622 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.6E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 1997 1997
dbSNP: rs200075329
rs200075329 		0.925 0.080 6 151808264 missense variant T/C snv 4.4E-03 4.3E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2019 2019
dbSNP: rs2228480
rs2228480 		0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs762292600
rs762292600 		0.925 0.080 6 151944316 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs772596249
rs772596249 		6 151842724 missense variant G/A snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009