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: rs773686816
rs773686816
PIK3R1
5 68295271 missense variant C/A;G;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 2 2014 2014
dbSNP: rs1057519839
rs1057519839
PIK3R1
5 68295257 missense variant G/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs1057519840
rs1057519840
PIK3R1
5 68295257 inframe deletion GACAAACGTATGAACAGC/- del
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs1057519842
rs1057519842
PIK3R1
5 68295304 inframe deletion CGA/- delins
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
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: 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: rs1057519757
rs1057519757
PIK3R1
0.882 0.120 5 68293310 missense variant G/A;C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 2 2010 2014
dbSNP: rs1057519757
rs1057519757
PIK3R1
0.882 0.120 5 68293310 missense variant G/A;C snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519757
rs1057519757
PIK3R1
0.882 0.120 5 68293310 missense variant G/A;C snv
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519757
rs1057519757
PIK3R1
0.882 0.120 5 68293310 missense variant G/A;C snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519757
rs1057519757
PIK3R1
0.882 0.120 5 68293310 missense variant G/A;C snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519841
rs1057519841
PIK3R1
0.925 0.120 5 68295269 missense variant A/G snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519841
rs1057519841
PIK3R1
0.925 0.120 5 68295269 missense variant A/G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519841
rs1057519841
PIK3R1
0.925 0.120 5 68295269 missense variant A/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs1057519841
rs1057519841
PIK3R1
0.925 0.120 5 68295269 missense variant A/G snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519841
rs1057519841
PIK3R1
0.925 0.120 5 68295269 missense variant A/G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs587777709
rs587777709
PIK3R1
0.882 0.160 5 68293835 splice donor variant G/A;C;T snv
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		0.700 1.000 4 2012 2016
dbSNP: rs587777709
rs587777709
PIK3R1
0.882 0.160 5 68293835 splice donor variant G/A;C;T snv
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		0.700 1.000 4 2012 2016
dbSNP: rs587777709
rs587777709
PIK3R1
0.882 0.160 5 68293835 splice donor variant G/A;C;T snv
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		0.700 1.000 4 2012 2016
dbSNP: rs1561299903
rs1561299903
PIK3R1
0.882 0.160 5 68295287 frameshift variant -/T delins
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		0.700 1.000 3 2013 2014
dbSNP: rs1561299903
rs1561299903
PIK3R1
0.882 0.160 5 68295287 frameshift variant -/T delins
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		0.700 1.000 3 2013 2014