rs121908354, CDH23

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 12
CUI: C1832394
Disease: Deafness, Autosomal Recessive 12
57 0.882 0.240 10 71570884 missense variant C/T snv 4.0E-05 7.0E-06 0.800 1.000 11 2001 2015
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.882 0.240 10 71570884 missense variant C/T snv 4.0E-05 7.0E-06 0.710 1.000 1 2015 2015
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
66 0.882 0.240 10 71570884 missense variant C/T snv 4.0E-05 7.0E-06 0.020 1.000 2 2015 2019
Nodular Sclerosis Classical Hodgkin Lymphoma
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
22 0.882 0.240 10 71570884 missense variant C/T snv 4.0E-05 7.0E-06 0.010 1.000 1 2019 2019