rs1355262412, 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 17524446 splice donor variant CCTCCAATCCCACCTCA/- delins 7.0E-06 0.700 1.000 1 2017 2017
USHER SYNDROME, TYPE IC
CUI: C1848604
Disease: USHER SYNDROME, TYPE IC
36 0.882 0.200 11 17524446 splice donor variant CCTCCAATCCCACCTCA/- delins 7.0E-06 0.700 1.000 1 2017 2017
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
74 0.882 0.200 11 17524446 splice donor variant CCTCCAATCCCACCTCA/- delins 7.0E-06 0.700 0