Gene: PTGS2 ×
Source: ALL
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: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.050 0.800 5 2010 2018
dbSNP: rs5275
rs5275
PTGS2
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.040 0.750 4 2007 2014
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.040 0.750 4 2014 2018
dbSNP: rs5277
rs5277
PTGS2 ; PACERR
9 0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06 0.030 0.667 3 2010 2015
dbSNP: rs2206593
rs2206593
PTGS2
3 0.925 0.080 1 186673297 3 prime UTR variant A/G snv 0.95 0.010 < 0.001 1 2015 2015
dbSNP: rs373745396
rs373745396
PTGS2 ; PACERR
2 0.925 0.080 1 186679322 missense variant G/A;C;T snv 4.0E-06; 8.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4648298
rs4648298
PTGS2
3 0.882 0.120 1 186672550 3 prime UTR variant T/C snv 1.7E-02 0.010 1.000 1 2007 2007