rs1057516342, PCDH15

N. diseases: 3
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 0.925 0.200 10 53995732 stop gained G/A;C snv 8.0E-06 0.700 1.000 3 2005 2015
Deafness, Autosomal Recessive 23
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
12 0.925 0.200 10 53995732 stop gained G/A;C snv 8.0E-06 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.925 0.200 10 53995732 stop gained G/A;C snv 8.0E-06 0.700 0