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: rs757200716
rs757200716
ESR1
0.851 0.160 6 151842617 missense variant G/A snv 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2011 2014
dbSNP: rs757200716
rs757200716
ESR1
0.851 0.160 6 151842617 missense variant G/A snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2011 2014
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: rs757200716
rs757200716
ESR1
0.851 0.160 6 151842617 missense variant G/A snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2014 2014
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