rs142656144, SLC26A4

N. diseases: 1
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 1.000 0.160 7 107710082 stop gained C/A;T snv 8.0E-06; 3.2E-05 0.700 1.000 3 2014 2016