rs111033348, SLC26A4

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.
Pendred's syndrome
CUI: C0271829
Disease: Pendred's syndrome
142 0.925 0.160 7 107674326 missense variant C/T snv 2.0E-05 7.0E-06 0.810 1.000 24 1997 2016
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
81 0.925 0.160 7 107674326 missense variant C/T snv 2.0E-05 7.0E-06 0.700 1.000 5 2000 2017
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.925 0.160 7 107674326 missense variant C/T snv 2.0E-05 7.0E-06 0.700 0