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: 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: rs2504063
rs2504063
ESR1 ; LOC107986529
6 151769572 intron variant A/G snv 0.50
CUI: C0005938
Disease: Bone Density
Bone Density 		0.800 1.000 2 2009 2009
dbSNP: rs3020331
rs3020331
ESR1
6 151687645 intron variant C/T snv 0.38
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 2 2009 2009
dbSNP: rs3020333
rs3020333
ESR1
6 151689119 intron variant A/C;G snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.800 1.000 2 2009 2018
dbSNP: rs397509428
rs397509428
ESR1
1.000 6 152011684 missense variant G/T snv
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.800 1.000 2 2013 2017
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: 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: rs1057519827
rs1057519827
ESR1
6 152011697 missense variant G/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs10872678
rs10872678
ESR1
6 151718829 intron variant T/C snv 0.33
CUI: C0005612
Disease: Birth Weight
Birth Weight 		0.700 1.000 1 2019 2019
dbSNP: rs1101081
rs1101081
ESR1
6 151711782 intron variant C/T snv 0.26
CUI: C0005612
Disease: Birth Weight
Birth Weight 		0.700 1.000 1 2016 2016
dbSNP: rs11155811
rs11155811
ESR1
6 151756711 intron variant C/T snv 0.44
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs1124674
rs1124674
ESR1
6 151759600 intron variant T/C;G snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs11446767
rs11446767
ESR1
6 151754327 intron variant TT/-;T;TTT;TTTT;TTTTT;TTTTTTTT;TTTTTTTTTT;TTTTTTTTTTTTTTTTT delins
CUI: C0425782
Disease: Breast size
Breast size 		0.700 1.000 1 2018 2018
dbSNP: rs1182554992
rs1182554992
ESR1
6 151880688 missense variant A/G snv 8.0E-06
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.010 < 0.001 1 2006 2006
dbSNP: rs1293936
rs1293936
ESR1
6 151696556 intron variant T/G snv 0.45
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs13192976
rs13192976
ESR1
6 151991280 intron variant A/T snv 0.16
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs1336981
rs1336981
ESR1
6 151761234 intron variant C/T snv 0.74
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs1415193
rs1415193
ESR1 ; LOC107986529
6 151771503 intron variant T/A snv 0.37
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs1415194
rs1415194
ESR1
6 151742863 intron variant A/G;T snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs1643821
rs1643821
ESR1
6 151862416 intron variant G/A snv 0.46
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		0.010 1.000 1 2012 2012
dbSNP: rs1643821
rs1643821
ESR1
6 151862416 intron variant G/A snv 0.46
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		0.010 1.000 1 2008 2008
dbSNP: rs1856057
rs1856057
ESR1
6 151746734 intron variant A/G snv 0.55
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs1890010
rs1890010
ESR1 ; LOC107986529
6 151764140 intron variant C/T snv 0.71
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs1999807
rs1999807
ESR1
6 151743064 intron variant C/G;T snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009