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: 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 16 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 18 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 14 2011 2019
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0376300
Disease: Dengue Shock Syndrome
Dengue Shock Syndrome 		0.700 1.000 1 2011 2011
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: 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: 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.040 0.750 4 2012 2018
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: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		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: 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: 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: 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: C0017152
Disease: Gastritis
Gastritis 		0.010 1.000 1 2014 2014
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		0.010 1.000 1 2014 2014
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2015 2015
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm 		0.010 1.000 1 2012 2012
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.010 < 0.001 1 2014 2014
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		0.010 < 0.001 1 2014 2014
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.010 < 0.001 1 2014 2014