rs1135401761, 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 0.925 0.200 1 27548302 stop gained G/A;C snv 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.925 0.200 1 27548302 stop gained G/A;C snv 0.700 0