rs1557667078, AHDC1

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.
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
CUI: C4014419
Disease: AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
13 1.000 0.200 1 27551119 frameshift variant C/- delins 0.700 0
Cerebellar vermis hypoplasia
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
26 1.000 0.200 1 27551119 frameshift variant C/- delins 0.700 0