rs121434350, AHI1

N. diseases: 3
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 0.882 0.240 6 135455750 missense variant A/T snv 0.800 1.000 6 2004 2013
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.240 6 135455750 missense variant A/T snv 0.700 0
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.882 0.240 6 135455750 missense variant A/T snv 0.010 1.000 1 2013 2013