Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs145092287
rs145092287
CTPS1
1 1.000 1 41010160 splice acceptor variant G/C snv 9.6E-05 1.5E-04 0.700 1.000 2 2014 2016