rs1057519009, ARID1B

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.
Coffin-Siris syndrome
CUI: C0265338
Disease: Coffin-Siris syndrome
6 1.000 0.280 6 157181118 frameshift variant -/AA delins 0.700 0