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: rs121909229
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.710 1.000 1 2016 2016
dbSNP: rs1057519724
rs1057519724
PTEN
1.000 0.080 10 87933236 missense variant G/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 4 1999 2010
dbSNP: rs121909219
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 4 1999 2010
dbSNP: rs121913289
rs121913289
PTEN
1.000 0.080 10 87958013 frameshift variant A/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 4 1999 2010
dbSNP: rs121909224
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1554897879
rs1554897879
PTEN
10 87931085 stop gained C/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0