rs1567815105, ADGRG1

N. diseases: 7
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.
Generalized seizures
CUI: C0234533
Disease: Generalized seizures
13 0.807 0.240 16 57660794 frameshift variant -/T delins 0.700 0
Generalized weakness of limb muscles
CUI: C4024605
Disease: Generalized weakness of limb muscles
1 0.807 0.240 16 57660794 frameshift variant -/T delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.240 16 57660794 frameshift variant -/T delins 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.807 0.240 16 57660794 frameshift variant -/T delins 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.807 0.240 16 57660794 frameshift variant -/T delins 0.700 0
Pachygyria
CUI: C0266483
Disease: Pachygyria
8 0.807 0.240 16 57660794 frameshift variant -/T delins 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.807 0.240 16 57660794 frameshift variant -/T delins 0.700 0