CTPS1, CTP synthase 1, 1503

N. diseases: 21; N. variants: 3
Disease: Bone Density ×
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: rs12408576
rs12408576 		1 40998765 intron variant A/G;T snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2019 2019