rs121908361, 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.
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
70 0.882 0.160 7 107689156 stop gained A/G;T snv 0.800 1.000 5 1998 2017
Pendred's syndrome
CUI: C0271829
Disease: Pendred's syndrome
129 0.882 0.160 7 107689156 stop gained A/G;T snv 0.710 1.000 1 2010 2015