rs1554354787, SLC26A4

N. diseases: 2
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 4, WITH ENLARGED VESTIBULAR AQUEDUCT
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
81 0.925 0.160 7 107674188 missense variant T/C snv 0.700 1.000 3 2006 2017
Pendred's syndrome
CUI: C0271829
Disease: Pendred's syndrome
142 0.925 0.160 7 107674188 missense variant T/C snv 0.700 1.000 2 2006 2010