rs121434350, AHI1

N. diseases: 2
Source: CLINVAR ×
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.
JOUBERT SYNDROME 3
CUI: C1837713
Disease: JOUBERT SYNDROME 3
45 0.882 0.240 6 135455750 missense variant A/T snv 0.800 1.000 0 2004 2013
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
505 0.882 0.240 6 135455750 missense variant A/T snv 0.700 0