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
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