CTPS1, CTP synthase 1, 1503

N. diseases: 21; N. variants: 3
Disease: IMMUNODEFICIENCY 24 ×
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: rs145092287
rs145092287 		1.000 1 41010160 splice acceptor variant G/C snv 9.6E-05 1.5E-04
CUI: C4014617
Disease: IMMUNODEFICIENCY 24
IMMUNODEFICIENCY 24 		0.700 1.000 2 2014 2016