PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
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: rs10490920
rs10490920
1.000 0.080 10 87925886 intron variant T/C snv 0.14
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs11202607
rs11202607
1.000 0.080 10 87967657 3 prime UTR variant C/T snv 6.7E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs562015640
rs562015640
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2018 2018
dbSNP: rs701848
rs701848
0.807 0.280 10 87966988 3 prime UTR variant T/C snv 0.33
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015