SERPINB5, serpin family B member 5, 5268

N. diseases: 87; N. variants: 5
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: rs6567365
rs6567365 		1.000 0.080 18 63497369 non coding transcript exon variant T/C snv 0.57
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs17071138
rs17071138 		1.000 0.080 18 63476675 upstream gene variant T/C snv 2.9E-02
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17071138
rs17071138 		1.000 0.080 18 63476675 upstream gene variant T/C snv 2.9E-02
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2289519
rs2289519 		1.000 0.080 18 63493054 missense variant T/C snv 0.66 0.72
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2289520
rs2289520 		0.925 0.120 18 63493087 missense variant G/A;C snv 0.14
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2289520
rs2289520 		0.925 0.120 18 63493087 missense variant G/A;C snv 0.14
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2289520
rs2289520 		0.925 0.120 18 63493087 missense variant G/A;C snv 0.14
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs8089104
rs8089104 		1.000 0.080 18 63480916 intron variant C/T snv 0.50
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs8089104
rs8089104 		1.000 0.080 18 63480916 intron variant C/T snv 0.50
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2017 2017