rs1554355011, 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 1.000 0.120 7 107674944 splice acceptor variant G/A snv 0.700 1.000 3 2003 2015
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 1.000 0.120 7 107674944 splice acceptor variant G/A snv 0.700 0