rs1064793257, SALL1

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.
Townes syndrome
CUI: C0265246
Disease: Townes syndrome
9 1.000 0.200 16 51138807 frameshift variant AT/- del 1.4E-05 0.700 0