PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: Mammary Neoplasms ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909229
rs121909229 		0.683 0.400 10 87933148 missense variant G/A;C;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 2 2016 2016
dbSNP: rs1057519724
rs1057519724 		1.000 0.080 10 87933236 missense variant G/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 1999 2010
dbSNP: rs121909219
rs121909219 		0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 1999 2010
dbSNP: rs121913289
rs121913289 		1.000 0.080 10 87958013 frameshift variant A/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 1999 2010
dbSNP: rs121909224
rs121909224 		0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1554897879
rs1554897879 		10 87931085 stop gained C/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121909218
rs121909218 		0.672 0.360 10 87933145 missense variant G/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121913292
rs121913292 		1.000 0.080 10 87933148 frameshift variant G/- del
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs57374291
rs57374291 		1.000 0.080 10 87933078 missense variant G/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016