Gene: ESR1 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.020 1.000 2 2010 2018
dbSNP: rs796065354
rs796065354
ESR1
9 0.882 0.080 6 151944320 missense variant A/G snv 0.020 0.500 2 2005 2010
dbSNP: rs762292600
rs762292600
ESR1
7 0.925 0.080 6 151944316 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs772596249
rs772596249
ESR1
2 6 151842724 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs149308960
rs149308960
ESR1
4 0.925 0.080 6 151842622 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.6E-03 0.010 1.000 1 1997 1997
dbSNP: rs2077647
rs2077647
ESR1
16 0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46 0.020 1.000 2 2010 2015
dbSNP: rs200075329
rs200075329
ESR1
4 0.925 0.080 6 151808264 missense variant T/C snv 4.4E-03 4.3E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs2228480
rs2228480
ESR1
16 0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18 0.010 1.000 1 2010 2010
dbSNP: rs1801132
rs1801132
ESR1
22 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 0.020 1.000 2 2010 2015