rs869025342, CCDC174

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION
CUI: C4225196
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION
1 1.000 3 14671194 stop lost A/G snv 0.700 0