rs1554359693, SLC26A4

N. diseases: 1
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.
Pendred's syndrome
CUI: C0271829
Disease: Pendred's syndrome
142 1.000 0.160 7 107694694 stop gained G/A snv 0.700 1.000 1 2013 2013