rs1207247951, USH1C

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.
Deafness, Autosomal Recessive 18
CUI: C1865870
Disease: Deafness, Autosomal Recessive 18
38 0.882 0.200 11 17517465 frameshift variant C/- delins 0.700 1.000 1 2012 2012
USHER SYNDROME, TYPE IC
CUI: C1848604
Disease: USHER SYNDROME, TYPE IC
36 0.882 0.200 11 17517465 frameshift variant C/- delins 0.700 1.000 1 2012 2012
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.200 11 17517465 frameshift variant C/- delins 0.700 0