rs148000791, 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 0.120 6 135323233 missense variant T/C snv 3.8E-03 1.2E-03 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.925 0.120 6 135323233 missense variant T/C snv 3.8E-03 1.2E-03 0.010 1.000 1 2017 2017