rs1555943492, RPS6KA3

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-Lowry syndrome
CUI: C0265252
Disease: Coffin-Lowry syndrome
25 1.000 0.080 X 20195144 frameshift variant A/- delins 0.700 0