PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: melanoma ×
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: rs121909233
rs121909233 		1.000 0.040 10 87864524 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.800 0
dbSNP: rs121909234
rs121909234 		1.000 0.040 10 87957867 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.800 0
dbSNP: rs121909232
rs121909232 		0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 0
dbSNP: rs587780004
rs587780004 		1.000 0.040 10 87894057 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2018 2018