rs397516413, SLC26A4

N. diseases: 2
Source: CLINVAR ×
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
129 0.925 0.160 7 107690171 frameshift variant T/- delins 7.0E-06 0.700 1.000 12 1997 2015
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
70 0.925 0.160 7 107690171 frameshift variant T/- delins 7.0E-06 0.700 1.000 3 2008 2015