rs397516332, MYO7A

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.
Usher Syndrome, Type I
CUI: C1568247
Disease: Usher Syndrome, Type I
168 0.925 0.200 11 77214608 missense variant G/A;T snv 5.2E-06; 1.0E-05 0.700 1.000 17 1995 2015
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
74 0.925 0.200 11 77214608 missense variant G/A;T snv 5.2E-06; 1.0E-05 0.700 1.000 2 2000 2017