rs111033312, SLC26A4

N. diseases: 4
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 107698112 splice donor variant G/A;C;T snv 1.6E-05; 4.0E-06 0.700 1.000 3 2002 2008
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 107698112 splice donor variant G/A;C;T snv 1.6E-05; 4.0E-06 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.925 0.160 7 107698112 splice donor variant G/A;C;T snv 1.6E-05; 4.0E-06 0.700 0
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.925 0.160 7 107698112 splice donor variant G/A;C;T snv 1.6E-05; 4.0E-06 0.700 0