rs1555574888, 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
1.000 17 46170875 frameshift variant G/- delins 0.700 1.000 5 2012 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
1.000 17 46170875 frameshift variant G/- delins 0.700 1.000 5 2012 2016