rs397514047, 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 68294575 missense variant G/A snv 0.800 1.000 1 2013 2013