CASP8, caspase 8, 841

N. diseases: 480; N. variants: 32
Disease: Autoimmune Lymphoproliferative Syndrome Type 2B ×
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
CUI: C1846545
Disease: Autoimmune Lymphoproliferative Syndrome Type 2B
Autoimmune Lymphoproliferative Syndrome Type 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 0