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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2010 2010
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma
Neoplasms; Nervous System Diseases 0.020 1.000 2 2009 2016
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0025286
Disease: Meningioma
Meningioma
Neoplasms; Nervous System Diseases 0.020 1.000 2 2009 2016
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2010 2014
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2010 2010
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: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.020 1.000 2 2008 2016
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
Meningioma, benign, no ICD-O subtype
Neoplasms; Nervous System Diseases 0.020 1.000 2 2009 2016
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
dbSNP: rs3769821
rs3769821
0.851 0.200 2 201258707 intron variant C/T snv 0.57
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2011 2013
dbSNP: rs3834129
rs3834129
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
Malignant neoplasm of colon and/or rectum
0.020 1.000 2 2014 2018
dbSNP: rs3834129
rs3834129
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.020 1.000 2 2013 2014
dbSNP: rs3834129
rs3834129
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2009 2019
dbSNP: rs3834129
rs3834129
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2009 2019
dbSNP: rs3834129
rs3834129
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.020 1.000 2 2013 2014
dbSNP: rs3834129
rs3834129
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2011 2013
dbSNP: rs3834129
rs3834129
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
Malignant neoplasm of urinary bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2009 2019
dbSNP: rs1044484322
rs1044484322
0.925 0.080 2 201271565 missense variant T/A;G snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1044484322
rs1044484322
0.925 0.080 2 201271565 missense variant T/A;G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006
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: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon
0.010 1.000 1 2012 2012