rs111033242, 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 107675050 missense variant C/G snv 4.8E-05 0.700 1.000 2 2011 2015
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 107675050 missense variant C/G snv 4.8E-05 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.925 0.160 7 107675050 missense variant C/G snv 4.8E-05 0.010 1.000 1 2018 2018