rs1472566324, 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 77156676 missense variant G/A snv 7.0E-06 0.800 1.000 6 2006 2016
DEAFNESS, AUTOSOMAL RECESSIVE 2
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
135 0.925 0.200 11 77156676 missense variant G/A snv 7.0E-06 0.700 1.000 4 2006 2016