rs587777523, ADNP

N. diseases: 1
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.
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
CUI: C4014538
Disease: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
16 1.000 0.160 20 50892215 frameshift variant TTTA/- delins 0.700 1.000 1 2014 2014