PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: Overgrowth ×
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: rs1060500126
rs1060500126 		0.790 0.160 10 87933223 missense variant A/C;G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 14 2001 2015
dbSNP: rs121909231
rs121909231 		0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 14 2001 2015
dbSNP: rs1554898088
rs1554898088 		1.000 10 87933066 frameshift variant CC/-;C delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 14 2001 2015