rs398122384, PIK3R1

N. diseases: 1
Source: CLINVAR ×
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.
SHORT syndrome
CUI: C0878684
Disease: SHORT syndrome
12 1.000 0.160 5 68296298 frameshift variant -/T delins 0.700 0