rs111706634, PJVK

N. diseases: 4
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 59
CUI: C1857744
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 59
9 0.882 0.120 2 178456149 missense variant C/A;T snv 4.0E-06; 4.0E-06; 4.0E-06 0.700 0
Auditory neuropathy
CUI: C1852271
Disease: Auditory neuropathy
20 0.882 0.120 2 178456149 missense variant C/A;T snv 4.0E-06; 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
Auditory neuropathy spectrum disorder
17 0.882 0.120 2 178456149 missense variant C/A;T snv 4.0E-06; 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.882 0.120 2 178456149 missense variant C/A;T snv 4.0E-06; 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007