rs797045468, CHD7

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.
CHARGE Syndrome
CUI: C0265354
Disease: CHARGE Syndrome
205 1.000 0.080 8 60741956 frameshift variant -/G delins 0.700 0