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.
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.827 0.200 8 143816821 splice acceptor variant T/C snv 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.827 0.200 8 143816821 splice acceptor variant T/C snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.200 8 143816821 splice acceptor variant T/C snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.827 0.200 8 143816821 splice acceptor variant T/C snv 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.827 0.200 8 143816821 splice acceptor variant T/C snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.827 0.200 8 143816821 splice acceptor variant T/C snv 0.700 0
VERHEIJ SYNDROME
CUI: C3810023
Disease: VERHEIJ SYNDROME
11 0.827 0.200 8 143816821 splice acceptor variant T/C snv 0.700 0