rs1057519838, PIK3R1

N. diseases: 4
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.
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.882 0.160 5 68293790 stop gained C/T snv 0.700 1.000 1 2014 2014
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
5 0.882 0.160 5 68293790 stop gained C/T snv 0.700 0
IMMUNODEFICIENCY 36
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
7 0.882 0.160 5 68293790 stop gained C/T snv 0.700 0
SHORT syndrome
CUI: C0878684
Disease: SHORT syndrome
12 0.882 0.160 5 68293790 stop gained C/T snv 0.700 0