rs797044953, SETD5

N. diseases: 3
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 1.000 3 9447684 splice acceptor variant A/T snv 0.700 1.000 26 1995 2018
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 1.000 3 9447684 splice acceptor variant A/T snv 0.700 1.000 26 1995 2018
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 3 9447684 splice acceptor variant A/T snv 0.700 1.000 26 1995 2018