Source: CLINVAR

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: rs1131692059
rs1131692059
ESR1
1.000 6 152011740 missense variant G/A snv
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.800 0
dbSNP: rs397509428
rs397509428
ESR1
1.000 6 152011684 missense variant G/T snv
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.800 1.000 0 2013 2017
dbSNP: rs796065354
rs796065354
ESR1
0.882 0.080 6 151944320 missense variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.760 1.000 5 2000 2013
dbSNP: rs1057519827
rs1057519827
ESR1
6 152011697 missense variant G/C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 3 2013 2014
dbSNP: rs1057519717
rs1057519717
ESR1
6 152098785 missense variant T/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 2 2013 2013
dbSNP: rs1057519714
rs1057519714
ESR1
6 152094402 missense variant T/C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2013 2013
dbSNP: rs1057519715
rs1057519715
ESR1
1.000 0.080 6 152098779 missense variant T/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2013 2013
dbSNP: rs1057519716
rs1057519716
ESR1
6 152098782 missense variant C/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2013 2013
dbSNP: rs104893956
rs104893956
ESR1
1.000 6 151842613 stop gained C/T snv
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.700 0
dbSNP: rs121913043
rs121913043
ESR1
6 152061094 missense variant TG/GC mnv
CUI: C4016037
Disease: ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE
ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE 		0.700 0
dbSNP: rs1562787582
rs1562787582
ESR1
1.000 6 152099207 3 prime UTR variant T/A snv
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.700 0