CTPS1, CTP synthase 1, 1503

N. diseases: 21; N. variants: 3
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
dbSNP: rs12408576
rs12408576 		1 40998765 intron variant A/G;T snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2019 2019
dbSNP: rs61780435
rs61780435 		1 41009899 3 prime UTR variant C/T snv 0.15
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019