CASP10, caspase 10, 843

N. diseases: 166; N. variants: 16
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: rs17860403
rs17860403 		0.882 0.160 2 201208114 missense variant C/T snv 2.4E-05 2.0E-04
CUI: C1858968
Disease: Autoimmune Lymphoproliferative Syndrome, Type IIA
Autoimmune Lymphoproliferative Syndrome, Type IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 1 1999 1999
dbSNP: rs28936699
rs28936699 		1.000 0.120 2 201209388 missense variant C/T snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 1 2002 2002
dbSNP: rs121909776
rs121909776 		1.000 0.080 2 201187798 missense variant T/C snv 1.2E-04 2.8E-05
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2002 2014
dbSNP: rs13006529
rs13006529 		0.851 0.080 2 201217736 missense variant T/A snv 0.41 0.42
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs3731714
rs3731714 		0.882 0.200 2 201196097 intron variant C/T snv 0.22
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3731714
rs3731714 		0.882 0.200 2 201196097 intron variant C/T snv 0.22
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3731714
rs3731714 		0.882 0.200 2 201196097 intron variant C/T snv 0.22
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs121909775
rs121909775 		1.000 0.120 2 201205929 stop gained C/A;T snv 4.0E-06
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121909775
rs121909775 		1.000 0.120 2 201205929 stop gained C/A;T snv 4.0E-06
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121909776
rs121909776 		1.000 0.080 2 201187798 missense variant T/C snv 1.2E-04 2.8E-05
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs17860403
rs17860403 		0.882 0.160 2 201208114 missense variant C/T snv 2.4E-05 2.0E-04
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs398122800
rs398122800 		1.000 0.120 2 201209189 frameshift variant -/A ins
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs80358239
rs80358239 		0.925 0.160 2 201209363 missense variant A/C;T snv 4.5E-03
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs13010627
rs13010627 		0.807 0.280 2 201209375 missense variant G/A snv 4.2E-02 4.3E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2006 2010
dbSNP: rs13010627
rs13010627 		0.807 0.280 2 201209375 missense variant G/A snv 4.2E-02 4.3E-02
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2002 2006
dbSNP: rs13010627
rs13010627 		0.807 0.280 2 201209375 missense variant G/A snv 4.2E-02 4.3E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2006 2010
dbSNP: rs80358239
rs80358239 		0.925 0.160 2 201209363 missense variant A/C;T snv 4.5E-03
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2016 2019
dbSNP: rs1250801605
rs1250801605 		1.000 0.160 2 201185809 missense variant G/A snv 4.0E-06
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs12613347
rs12613347 		2 201190589 intron variant C/T snv 0.19
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs13006529
rs13006529 		0.851 0.080 2 201217736 missense variant T/A snv 0.41 0.42
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs13006529
rs13006529 		0.851 0.080 2 201217736 missense variant T/A snv 0.41 0.42
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs13006529
rs13006529 		0.851 0.080 2 201217736 missense variant T/A snv 0.41 0.42
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs13006529
rs13006529 		0.851 0.080 2 201217736 missense variant T/A snv 0.41 0.42
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs13006529
rs13006529 		0.851 0.080 2 201217736 missense variant T/A snv 0.41 0.42
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs13006529
rs13006529 		0.851 0.080 2 201217736 missense variant T/A snv 0.41 0.42
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012