Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519838
rs1057519838
PIK3R1
0.882 0.160 5 68293790 stop gained C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs1057519838
rs1057519838
PIK3R1
0.882 0.160 5 68293790 stop gained C/T snv
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1057519838
rs1057519838
PIK3R1
0.882 0.160 5 68293790 stop gained C/T snv
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		0.700 0
dbSNP: rs1057519838
rs1057519838
PIK3R1
0.882 0.160 5 68293790 stop gained C/T snv
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		0.700 0