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: rs1131692242
rs1131692242
PIK3R1
5 68293722 inframe deletion AGA/- delins
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs1131692243
rs1131692243
PIK3R1
5 68295419 splice region variant GGT/- delins
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs797045063
rs797045063
PIK3R1
1.000 0.160 5 68294570 missense variant T/C snv
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		0.700 1.000 1 2016 2016
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
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: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1554051033
rs1554051033
PIK3R1
1.000 5 68293708 splice acceptor variant G/C snv
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		0.700 0
dbSNP: rs1554051067
rs1554051067
PIK3R1
1.000 5 68293835 splice donor variant TG/- delins
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		0.700 0
dbSNP: rs1554051075
rs1554051075
PIK3R1
1.000 5 68293836 splice donor variant T/A;G snv
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		0.700 0
dbSNP: rs397509384
rs397509384
PIK3R1
1.000 5 68280983 stop gained G/A snv
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs398122384
rs398122384
PIK3R1
1.000 0.160 5 68296298 frameshift variant -/T delins
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		0.700 0
dbSNP: rs398122385
rs398122385
PIK3R1
1.000 0.160 5 68296262 frameshift variant -/C ins
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		0.700 0
dbSNP: rs515726149
rs515726149
PIK3R1
1.000 0.160 5 68296248 missense variant G/A snv
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		0.700 0
dbSNP: rs515726150
rs515726150
PIK3R1
1.000 0.160 5 68296260 frameshift variant AA/- delins
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		0.700 0
dbSNP: rs515726151
rs515726151
PIK3R1
1.000 0.160 5 68296327 stop gained T/G snv
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		0.700 0
dbSNP: rs587784325
rs587784325
PIK3R1
1.000 0.160 5 68293187 missense variant C/T snv
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		0.700 0