ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Disease: ESTROGEN RESISTANCE ×
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: rs397509428
rs397509428 		1.000 6 152011684 missense variant G/T snv
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.800 1.000 2 2013 2017
dbSNP: rs1131692059
rs1131692059 		1.000 6 152011740 missense variant G/A snv
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.800 0
dbSNP: rs104893956
rs104893956 		1.000 6 151842613 stop gained C/T snv
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.700 0
dbSNP: rs1562787582
rs1562787582 		1.000 6 152099207 3 prime UTR variant T/A snv
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.700 0