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: rs104893956
rs104893956
ESR1
1.000 6 151842613 stop gained C/T snv
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.700 0
dbSNP: rs1131692059
rs1131692059
ESR1
1.000 6 152011740 missense variant G/A snv
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.800 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: rs139960913
rs139960913
ESR1
1.000 0.080 6 151807928 missense variant C/T snv 3.3E-03 3.1E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		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
dbSNP: rs757200716
rs757200716
ESR1
0.851 0.160 6 151842617 missense variant G/A snv 8.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 1.000 1 1994 1994
dbSNP: rs757200716
rs757200716
ESR1
0.851 0.160 6 151842617 missense variant G/A snv 8.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.010 1.000 1 1994 1994
dbSNP: rs149308960
rs149308960
ESR1
0.925 0.080 6 151842622 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.6E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 1997 1997
dbSNP: rs149308960
rs149308960
ESR1
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 		0.010 1.000 1 1997 1997
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 9 2000 2013
dbSNP: rs200960801
rs200960801
ESR1
0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		0.010 1.000 1 2002 2002
dbSNP: rs796065354
rs796065354
ESR1
0.882 0.080 6 151944320 missense variant A/G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.080 1.000 8 2004 2010
dbSNP: rs904571820
rs904571820
ESR1
0.851 0.160 6 151842664 start lost A/G snv 4.0E-06
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2004 2004
dbSNP: rs796065354
rs796065354
ESR1
0.882 0.080 6 151944320 missense variant A/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.040 1.000 4 2005 2009
dbSNP: rs1462893414
rs1462893414
ESR1
0.882 0.080 6 151944323 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.030 1.000 3 2005 2007
dbSNP: rs1462893414
rs1462893414
ESR1
0.882 0.080 6 151944323 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2005 2007
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.030 0.667 3 2005 2013
dbSNP: rs1462893414
rs1462893414
ESR1
0.882 0.080 6 151944323 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2005 2007
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.020 1.000 2 2005 2019
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.020 1.000 2 2005 2009
dbSNP: rs796065354
rs796065354
ESR1
0.882 0.080 6 151944320 missense variant A/G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 0.500 2 2005 2010
dbSNP: rs796065354
rs796065354
ESR1
0.882 0.080 6 151944320 missense variant A/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2005 2010
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.020 1.000 2 2005 2013
dbSNP: rs1462893414
rs1462893414
ESR1
0.882 0.080 6 151944323 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2005 2005
dbSNP: rs188957694
rs188957694
ESR1
0.882 0.080 6 151944218 missense variant G/A;C snv 4.0E-05 4.9E-05
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 1.000 1 2005 2005