rs797045049, KANSL1

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.
Chromosome 17q21.31 Deletion Syndrome
CUI: C1864871
Disease: Chromosome 17q21.31 Deletion Syndrome
17 1.000 0.200 17 46031669 frameshift variant A/- del 0.700 1.000 1 2016 2016