NFIA, nuclear factor I A, 4774

N. diseases: 95; N. variants: 29
Disease: Dysmorphic features ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553182933
rs1553182933 		1.000 1 61404103 splice acceptor variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1999 2015