rs1057518978, ADNP

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.
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 50892395 frameshift variant -/T delins 0.700 0
Choroid plexus cyst
CUI: C0338597
Disease: Choroid plexus cyst
3 1.000 0.160 20 50892395 frameshift variant -/T delins 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 1.000 0.160 20 50892395 frameshift variant -/T delins 0.700 0