rs1553182933, NFIA

N. diseases: 2
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 1 61404103 splice acceptor variant G/A snv 0.700 1.000 12 1999 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 1.000 1 61404103 splice acceptor variant G/A snv 0.700 1.000 12 1999 2015