rs780163791, 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.
Ciliopathies
CUI: C4277690
Disease: Ciliopathies
7 0.925 0.160 6 135323294 stop gained G/A;C snv 4.0E-05; 4.0E-06 0.010 1.000 1 2015 2015
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.925 0.160 6 135323294 stop gained G/A;C snv 4.0E-05; 4.0E-06 0.010 1.000 1 2015 2015