rs727504301, PCDH15

N. diseases: 5
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.
Usher Syndrome, Type IF
CUI: C1865885
Disease: Usher Syndrome, Type IF
90 0.851 0.200 10 54090054 stop gained G/A;C snv 0.700 1.000 2 2003 2006
Congenital sensorineural hearing loss
CUI: C1865866
Disease: Congenital sensorineural hearing loss
17 0.851 0.200 10 54090054 stop gained G/A;C snv 0.700 0
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.851 0.200 10 54090054 stop gained G/A;C snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.851 0.200 10 54090054 stop gained G/A;C snv 0.700 0
USHER SYNDROME, TYPE ID
CUI: C1832845
Disease: USHER SYNDROME, TYPE ID
40 0.851 0.200 10 54090054 stop gained G/A;C snv 0.700 0