rs797044549, TBC1D24

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.
Digitorenocerebral Syndrome
CUI: C0795934
Disease: Digitorenocerebral Syndrome
11 1.000 0.280 16 2500424 frameshift variant -/A delins 0.700 0