PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: Lipoma ×
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: rs1085308041
rs1085308041 		0.763 0.160 10 87965285 splice acceptor variant A/C;G snv
CUI: C0023798
Disease: Lipoma
Lipoma 		Neoplasms 0.700 0
dbSNP: rs1085308043
rs1085308043 		0.763 0.200 10 87925511 splice acceptor variant A/G;T snv
CUI: C0023798
Disease: Lipoma
Lipoma 		Neoplasms 0.700 0
dbSNP: rs1085308054
rs1085308054 		0.827 0.160 10 87952231 frameshift variant AT/- delins
CUI: C0023798
Disease: Lipoma
Lipoma 		Neoplasms 0.700 0
dbSNP: rs121909218
rs121909218 		0.672 0.360 10 87933145 missense variant G/A snv
CUI: C0023798
Disease: Lipoma
Lipoma 		Neoplasms 0.700 0
dbSNP: rs121909219
rs121909219 		0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0023798
Disease: Lipoma
Lipoma 		Neoplasms 0.700 0