rs775518991, 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 136430319 frameshift variant A/- del 1.3E-05 2.1E-05 0.700 1.000 1 2015 2015