rs1565017125, USH1C

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.
Deafness, Autosomal Recessive 18
CUI: C1865870
Disease: Deafness, Autosomal Recessive 18
38 1.000 0.120 11 17496814 splice acceptor variant C/A snv 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 1.000 0.120 11 17496814 splice acceptor variant C/A snv 0.700 0