rs111033318, SLC26A4

N. diseases: 3
Source: CLINVAR ×
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 4, WITH ENLARGED VESTIBULAR AQUEDUCT
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
70 0.925 0.160 7 107702050 missense variant T/A snv 0.800 1.000 0 1998 2017
Pendred's syndrome
CUI: C0271829
Disease: Pendred's syndrome
129 0.925 0.160 7 107702050 missense variant T/A snv 0.700 1.000 9 2003 2014
hearing impairment
CUI: C1384666
Disease: hearing impairment
257 0.925 0.160 7 107702050 missense variant T/A snv 0.700 0