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: rs13010627
rs13010627
0.807 0.280 2 201209375 missense variant G/A snv 4.2E-02 4.3E-02
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: rs80358239
rs80358239
0.925 0.160 2 201209363 missense variant A/C;T snv 4.5E-03
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: rs17860403
rs17860403
0.882 0.160 2 201208114 missense variant C/T snv 2.4E-05 2.0E-04
Autoimmune Lymphoproliferative Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs17860405
rs17860405
1.000 0.120 2 201209484 missense variant A/G snv 3.0E-02 2.9E-02
Autoimmune Lymphoproliferative Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019