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: rs17860424
rs17860424
1.000 0.120 2 201276908 missense variant C/T snv 1.2E-05 7.0E-06
Autoimmune Lymphoproliferative Syndrome Type 2B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 0
dbSNP: rs587776665
rs587776665
1.000 0.080 2 201285238 frameshift variant GT/- delins
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs3769825
rs3769825
0.925 0.120 2 201246657 intron variant A/G snv 0.46
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 1 2013 2013
dbSNP: rs10931933
rs10931933
2 201247748 intron variant G/A;C;T snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs10931936
rs10931936
0.827 0.120 2 201279205 intron variant T/C snv 0.72
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.700 1.000 1 2011 2011
dbSNP: rs3769821
rs3769821
0.851 0.200 2 201258707 intron variant C/T snv 0.57
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3769823
rs3769823
0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3769823
rs3769823
0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3769823
rs3769823
0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3769823
rs3769823
0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2017 2017
dbSNP: rs3769825
rs3769825
0.925 0.120 2 201246657 intron variant A/G snv 0.46
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs59308963
rs59308963
1.000 0.080 2 201258757 intron variant ATTCTGTC/- delins 0.72
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs6735656
rs6735656
2 201259779 intron variant G/T snv 0.73
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.700 1.000 1 2016 2016
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
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
Neoplasms; Nervous System 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: C0027819
Disease: Neuroblastoma
Neuroblastoma
Neoplasms 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: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
Neoplasms 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
Malignant neoplasm of colon and/or rectum
0.010 1.000 1 2008 2008