rs746212325, INPP5E

N. diseases: 1
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 1
CUI: C4551568
Disease: Joubert syndrome 1
31 1.000 0.160 9 136434769 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05 0.800 1.000 2 2011 2015