PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: Dysmorphic features ×
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: rs1554898088
rs1554898088 		1.000 10 87933066 frameshift variant CC/-;C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 2001 2015
dbSNP: rs786201041
rs786201041 		0.776 0.160 10 87961119 splice donor variant G/A;C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 2001 2015
dbSNP: rs786204929
rs786204929 		0.752 0.200 10 87933144 stop gained G/A;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 2001 2015
dbSNP: rs876659443
rs876659443 		0.925 0.080 10 87894048 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 2001 2015
dbSNP: rs886041877
rs886041877 		1.000 10 87894025 missense variant A/C;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 2001 2015