Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		0.700 0