rs794729195, AHI1

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.
JOUBERT SYNDROME 3
CUI: C1837713
Disease: JOUBERT SYNDROME 3
45 0.925 0.240 6 135455873 frameshift variant G/- delins 0.700 1.000 1 2004 2004
Joubert syndrome 1
CUI: C4551568
Disease: Joubert syndrome 1
31 0.925 0.240 6 135455873 frameshift variant G/- delins 0.700 0