rs984967571, 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 107672200 missense variant C/T snv 4.0E-06 0.700 0
Pendred's syndrome
CUI: C0271829
Disease: Pendred's syndrome
142 0.925 0.160 7 107672200 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010