Source: BEFREE

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: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.900 0.938 13 2010 2019
dbSNP: rs3765524
rs3765524
PLCE1
0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.820 1.000 2 2010 2019
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.800 1.000 17 2010 2019
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.800 0.929 13 2011 2019
dbSNP: rs3781264
rs3781264
PLCE1
0.851 0.120 10 94310618 intron variant A/G snv 0.25
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.710 1.000 1 2010 2012
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.100 1.000 17 2010 2019
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.100 1.000 16 2010 2019
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.100 0.923 13 2012 2019
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.070 1.000 7 2013 2019
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.070 1.000 7 2013 2019
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.040 0.750 4 2012 2018
dbSNP: rs3765524
rs3765524
PLCE1
0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.030 1.000 3 2012 2018
dbSNP: rs11187842
rs11187842
PLCE1
0.925 0.080 10 94292754 intron variant C/T snv 7.8E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.020 1.000 2 2012 2014
dbSNP: rs11187842
rs11187842
PLCE1
0.925 0.080 10 94292754 intron variant C/T snv 7.8E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.020 1.000 2 2012 2014
dbSNP: rs17417407
rs17417407
PLCE1
1.000 0.080 10 94171330 missense variant G/A;T snv 3.2E-05; 0.17
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.020 1.000 2 2012 2013
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2011 2012
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
Malignant neoplasm of gastrointestinal tract 		0.020 1.000 2 2012 2013
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.020 1.000 2 2012 2013
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C1333762
Disease: Gastric Cardia Adenocarcinoma
Gastric Cardia Adenocarcinoma 		0.020 1.000 2 2011 2011
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		0.020 1.000 2 2013 2018
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		0.020 1.000 2 2011 2011
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.020 1.000 2 2013 2018
dbSNP: rs3765524
rs3765524
PLCE1
0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2018 2019
dbSNP: rs3765524
rs3765524
PLCE1
0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.020 1.000 2 2014 2019
dbSNP: rs3765524
rs3765524
PLCE1
0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.020 1.000 2 2014 2017