Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2009 2013
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2013 2013
dbSNP: rs13306035
rs13306035
PTGS2
1.000 0.080 1 186672715 3 prime UTR variant A/G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs20426
rs20426
PTGS2 ; PACERR
1.000 0.080 1 186680288 start lost C/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs377655174
rs377655174
PTGS2
1.000 0.080 1 186678374 missense variant G/A snv 8.1E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs4648298
rs4648298
PTGS2
0.882 0.120 1 186672550 3 prime UTR variant T/C snv 1.7E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs5273
rs5273
PTGS2
0.827 0.080 1 186674636 missense variant A/C;G snv 4.0E-06; 7.6E-03 1.4E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 < 0.001 1 2013 2013
dbSNP: rs5276
rs5276
PTGS2
1.000 0.080 1 186673855 3 prime UTR variant C/T snv 4.6E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs5277
rs5277
PTGS2 ; PACERR
0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs748500299
rs748500299
PTGS2
0.790 0.200 1 186675960 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2015 2015