rs368657015, MYO7A

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.
Usher Syndrome, Type I
CUI: C1568247
Disease: Usher Syndrome, Type I
168 0.882 0.200 11 77205554 missense variant T/C snv 2.4E-05 7.0E-06 0.800 1.000 15 1995 2015
DEAFNESS, AUTOSOMAL RECESSIVE 2
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
135 0.882 0.200 11 77205554 missense variant T/C snv 2.4E-05 7.0E-06 0.700 1.000 6 2000 2012
Deafness, Autosomal Dominant 11
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
16 0.882 0.200 11 77205554 missense variant T/C snv 2.4E-05 7.0E-06 0.700 0