rs1554236054, ARID1B

N. diseases: 3
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 1.000 6 157201481 frameshift variant -/G delins 0.700 1.000 20 1984 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 1.000 6 157201481 frameshift variant -/G delins 0.700 1.000 20 1984 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 1.000 6 157201481 frameshift variant -/G delins 0.700 1.000 20 1984 2017