rs28929485, GJB2

N. diseases: 7
Disease: Senter syndrome ×
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.
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
30 0.807 0.320 13 20189532 missense variant G/A;C snv 0.810 1.000 1 2004 2004