rs111033316, 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 107696036 missense variant A/G snv 5.6E-05 6.3E-05 0.800 1.000 22 1997 2016