CASP8, caspase 8, 841

N. diseases: 480; N. variants: 32
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: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases 0.020 1.000 2 2012 2017
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs6704688
rs6704688 		0.882 0.160 2 201241309 non coding transcript exon variant C/A;T snv
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs779189628
rs779189628 		0.925 0.120 2 201284885 missense variant A/G snv 4.0E-06
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs779189628
rs779189628 		0.925 0.120 2 201284885 missense variant A/G snv 4.0E-06
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2006 2006
dbSNP: rs772151801
rs772151801 		1.000 0.080 2 201266579 synonymous variant G/A;T snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		Nervous System Diseases; Wounds and Injuries 0.010 1.000 1 2020 2020
dbSNP: rs13113
rs13113 		0.925 0.200 2 201287439 3 prime UTR variant T/A snv 0.33
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		Nervous System Diseases; Wounds and Injuries 0.010 1.000 1 2020 2020
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		Nervous System Diseases; Wounds and Injuries 0.010 1.000 1 2020 2020
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0280313
Disease: Squamous cell carcinoma of oropharynx
Squamous cell carcinoma of oropharynx 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0153382
Disease: Malignant neoplasm of oropharynx
Malignant neoplasm of oropharynx 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C2349952
Disease: Oropharyngeal Carcinoma
Oropharyngeal Carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1045487
rs1045487 		1.000 0.080 2 201284973 synonymous variant G/A snv 9.5E-02 0.10
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1045487
rs1045487 		1.000 0.080 2 201284973 synonymous variant G/A snv 9.5E-02 0.10
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.882 17 2004 2019
dbSNP: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.875 16 2004 2019
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.050 1.000 5 2008 2019
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.050 1.000 5 2008 2019
dbSNP: rs10931936
rs10931936 		0.827 0.120 2 201279205 intron variant T/C snv 0.72
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2012 2019
dbSNP: rs10931936
rs10931936 		0.827 0.120 2 201279205 intron variant T/C snv 0.72
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2012 2019