PLCE1, phospholipase C epsilon 1, 51196

N. diseases: 114; N. variants: 57
Disease: Squamous cell carcinoma of esophagus ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2274223
rs2274223 		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 		Digestive System Diseases; Neoplasms 0.800 1.000 18 2010 2019
dbSNP: rs17417407
rs17417407 		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 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2012 2013
dbSNP: rs3765524
rs3765524 		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 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2014 2017
dbSNP: rs11187870
rs11187870 		1.000 0.080 10 94328109 3 prime UTR variant G/C snv 6.3E-02
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs11599672
rs11599672 		0.925 0.080 10 93993019 regulatory region variant T/G snv 0.21
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs12263737
rs12263737 		1.000 0.080 10 94285156 intron variant G/A snv 0.32
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs17109671
rs17109671 		1.000 0.080 10 94031856 synonymous variant T/C snv 0.31 0.40
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2274224
rs2274224 		0.882 0.080 10 94279840 missense variant G/A;C snv 8.8E-05; 0.44
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs71031566
rs71031566 		1.000 0.080 10 94287212 non coding transcript exon variant -/ATTT ins 0.29
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs7922612
rs7922612 		0.752 0.080 10 94051682 intron variant C/T snv 0.39
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2014 2014