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.
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
1 18 55350409 splice acceptor variant C/T snp 0.700 1 2015 2015
Epicanthus palpebralis
CUI: C1303004
Disease: Epicanthus palpebralis
3 18 55350409 splice acceptor variant C/T snp 0.700 1 2015 2015
Short nose
CUI: C1854114
Disease: Short nose
4 18 55350409 splice acceptor variant C/T snp 0.700 1 2015 2015
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
8 18 55350409 splice acceptor variant C/T snp 0.700 1 2015 2015
Mental and motor retardation
CUI: C4020875
Disease: Mental and motor retardation
151 18 55350409 splice acceptor variant C/T snp 0.700 1 2015 2015
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
4 18 55350409 splice acceptor variant C/T snp 0.700 1 2015 2015
Drooling
CUI: C0013132
Disease: Drooling
1 18 55350409 splice acceptor variant C/T snp 0.700 1 2015 2015