NLRP2, NLR family pyrin domain containing 2, 55655

N. diseases: 155; N. variants: 21
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: rs1671135
rs1671135 		19 55000505 intron variant G/C;T snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs776037868
rs776037868 		1.000 0.040 19 54982866 missense variant G/T snv 7.2E-05
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.020 0.500 2 2003 2007
dbSNP: rs779179826
rs779179826 		1.000 0.040 19 54982593 missense variant G/T snv 4.0E-06
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.020 0.500 2 2003 2007
dbSNP: rs1043673
rs1043673 		19 55000864 missense variant C/A snv 0.37 0.39
CUI: C0035204
Disease: Respiration Disorders
Respiration Disorders 		Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1043673
rs1043673 		19 55000864 missense variant C/A snv 0.37 0.39
CUI: C0037284
Disease: Skin lesion
Skin lesion 		Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1194491371
rs1194491371 		0.925 0.080 19 54982809 missense variant C/A;G snv 4.0E-06; 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 2005 2005
dbSNP: rs1194491371
rs1194491371 		0.925 0.080 19 54982809 missense variant C/A;G snv 4.0E-06; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1312839452
rs1312839452 		1.000 0.160 19 54982237 missense variant A/G snv 4.0E-06
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs141427711
rs141427711 		19 54982636 missense variant C/A;T snv 4.0E-06; 1.2E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs141427711
rs141427711 		19 54982636 missense variant C/A;T snv 4.0E-06; 1.2E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs1425708787
rs1425708787 		0.925 0.080 19 54970272 missense variant 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 2008 2008
dbSNP: rs1425708787
rs1425708787 		0.925 0.080 19 54970272 missense variant A/G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs143026800
rs143026800 		0.925 0.200 19 54982440 missense variant A/T snv 8.0E-06 3.5E-05
CUI: C4012790
Disease: Ataxia-Telangiectasisa-Like Disorder 1
Ataxia-Telangiectasisa-Like Disorder 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs143026800
rs143026800 		0.925 0.200 19 54982440 missense variant A/T snv 8.0E-06 3.5E-05
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs144271525
rs144271525 		0.925 0.200 19 54983044 missense variant C/T snv 1.7E-04 3.4E-04
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs144271525
rs144271525 		0.925 0.200 19 54983044 missense variant C/T snv 1.7E-04 3.4E-04
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1450202535
rs1450202535 		0.925 0.080 19 54983289 missense variant G/A snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1450202535
rs1450202535 		0.925 0.080 19 54983289 missense variant G/A snv 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs145646456
rs145646456 		1.000 0.080 19 54982710 missense variant C/T snv 3.6E-05 1.5E-04
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs146084801
rs146084801 		0.925 0.200 19 54983245 missense variant C/T snv 4.4E-05 1.5E-04
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs146084801
rs146084801 		0.925 0.200 19 54983245 missense variant C/T snv 4.4E-05 1.5E-04
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs146314922
rs146314922 		0.925 0.120 19 54982828 missense variant A/G snv
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs146314922
rs146314922 		0.925 0.120 19 54982828 missense variant A/G snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1482545954
rs1482545954 		0.882 0.120 19 54982407 missense variant C/T snv 7.0E-06
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2006 2006
dbSNP: rs1482545954
rs1482545954 		0.882 0.120 19 54982407 missense variant C/T snv 7.0E-06
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006