rs111033178, MYO7A

N. diseases: 6
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 0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05 0.800 1.000 16 1995 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05 0.700 1.000 13 1995 2011
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05 0.700 1.000 13 1995 2011
DEAFNESS, AUTOSOMAL RECESSIVE 2
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
135 0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05 0.700 1.000 7 1999 2012
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
74 0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05 0.700 1.000 1 1999 1999
Deafness, Autosomal Dominant 11
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
16 0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05 0.700 0