Gene: PTEN ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554898088
rs1554898088
PTEN
2 1.000 10 87933066 frameshift variant CC/-;C delins 0.700 1.000 14 2001 2015
dbSNP: rs786201041
rs786201041
PTEN
9 0.776 0.160 10 87961119 splice donor variant G/A;C snv 0.700 1.000 14 2001 2015
dbSNP: rs786204929
rs786204929
PTEN
2 0.752 0.200 10 87933144 stop gained G/A;T snv 0.700 1.000 14 2001 2015
dbSNP: rs876659443
rs876659443
PTEN
4 0.925 0.080 10 87894048 missense variant A/G snv 0.700 1.000 14 2001 2015
dbSNP: rs886041877
rs886041877
PTEN
4 1.000 10 87894025 missense variant A/C;G snv 0.700 1.000 14 2001 2015