rs1554361584, 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 107704340 stop gained G/T snv 0.700 1.000 1 2013 2013