rs1427624649, KANSL1

N. diseases: 2
Source: INFERRED ×
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.925 0.200 17 46171102 stop gained G/A;C snv 7.0E-06 0.700 1.000 5 2012 2016
Chromosome 17q21.31 Deletion Syndrome
CUI: C1864871
Disease: Chromosome 17q21.31 Deletion Syndrome
0.925 0.200 17 46171102 stop gained G/A;C snv 7.0E-06 0.700 1.000 1 2015 2015