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: rs62642937
rs62642937
PAH
3 0.925 0.120 12 102843706 missense variant G/A snv 4.4E-04 3.6E-04 0.710 1.000 8 1994 2014
dbSNP: rs5030856
rs5030856
PAH
3 0.925 0.120 12 102843676 missense variant T/C snv 9.9E-05 7.7E-05 0.710 1.000 6 1999 2015
dbSNP: rs76212747
rs76212747
PAH
3 0.925 0.120 12 102852923 missense variant A/G;T snv 4.8E-04; 2.4E-05 0.710 1.000 5 1994 2015
dbSNP: rs62644499
rs62644499
PAH
3 0.925 0.120 12 102840472 missense variant C/T snv 1.1E-04 1.1E-04 0.700 1.000 6 1996 2015
dbSNP: rs199475602
rs199475602
PAH
2 0.925 0.120 12 102855313 missense variant C/G;T snv 2.0E-05; 1.6E-05 0.700 1.000 5 2002 2013
dbSNP: rs5030853
rs5030853
PAH
3 0.925 0.120 12 102851701 missense variant C/A snv 5.9E-04 3.4E-04 0.700 1.000 3 2008 2015
dbSNP: rs62517205
rs62517205
PAH
2 0.925 0.120 12 102855241 missense variant G/A snv 4.0E-06 0.700 1.000 3 2005 2013
dbSNP: rs62642939
rs62642939
PAH
2 0.925 0.120 12 102851709 missense variant C/T snv 4.0E-06 2.8E-05 0.700 1.000 2 2013 2014
dbSNP: rs118203925
rs118203925
PAH
2 0.925 0.120 12 102912819 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs199475598
rs199475598
PAH
2 0.925 0.120 12 102912794 missense variant A/C snv 1.7E-04 2.2E-04 0.700 0
dbSNP: rs5030860
rs5030860
PAH
3 0.925 0.120 12 102840474 missense variant T/C snv 3.7E-04 2.4E-04 0.700 0
dbSNP: rs62507347
rs62507347
PAH
2 0.925 0.120 12 102894860 missense variant T/C;G snv 0.700 0
dbSNP: rs62508613
rs62508613
PAH
4 0.925 0.120 12 102843629 intron variant C/T snv 7.0E-06 0.700 0
dbSNP: rs62508689
rs62508689
PAH
2 0.925 0.120 12 102844333 splice region variant T/C;G snv 0.700 0
dbSNP: rs62514891
rs62514891
PAH
2 0.925 0.120 12 102917130 start lost T/A;C snv 8.0E-06 0.700 0
dbSNP: rs62516060
rs62516060
PAH
2 0.925 0.120 12 102844404 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs62516151
rs62516151
PAH
2 0.925 0.120 12 102894826 missense variant G/T snv 7.6E-05 4.2E-05 0.700 0
dbSNP: rs62642934
rs62642934
PAH
2 0.925 0.120 12 102846948 missense variant T/C snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs74486803
rs74486803
PAH
2 0.925 0.120 12 102855315 missense variant C/A;G;T snv 5.2E-05; 2.8E-05 0.700 0
dbSNP: rs763115697
rs763115697
PAH
3 0.925 0.120 12 102846930 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs5030849
rs5030849
PAH
6 0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 0.020 1.000 2 1991 1993
dbSNP: rs104894275
rs104894275
PTS
3 0.882 0.120 11 112228665 missense variant A/G snv 1.2E-04 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs104894276
rs104894276
PTS
3 0.882 0.120 11 112233178 missense variant C/G;T snv 4.0E-06; 7.6E-05 0.010 1.000 1 1998 1998
dbSNP: rs104894277
rs104894277
PTS
2 0.925 0.120 11 112230210 missense variant G/A;C snv 1.6E-05; 8.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs104894280
rs104894280
PTS
2 0.925 0.120 11 112233205 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 1998 1998