rs118203988, PJVK

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.
DEAFNESS, AUTOSOMAL RECESSIVE 59
CUI: C1857744
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 59
9 0.882 0.120 2 178453570 missense variant C/T snv 0.800 1.000 2 2006 2012
Auditory neuropathy
CUI: C1852271
Disease: Auditory neuropathy
20 0.882 0.120 2 178453570 missense variant C/T snv 0.010 1.000 1 2007 2007
Auditory neuropathy spectrum disorder
CUI: C2732267
Disease: Auditory neuropathy spectrum disorder
17 0.882 0.120 2 178453570 missense variant C/T snv 0.010 1.000 1 2007 2007