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: rs1278838206
rs1278838206
3 0.925 0.200 X 100296654 missense variant C/T snv 1.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs121918364
rs121918364
5 0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05 0.010 1.000 1 2006 2006
dbSNP: rs5030849
rs5030849
PAH
6 0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 0.010 1.000 1 1991 1991
dbSNP: rs1562928193
rs1562928193
1 1.000 0.200 7 105102045 frameshift variant -/TA delins 0.700 0
dbSNP: rs1555050158
rs1555050158
2 0.925 0.200 11 105926808 missense variant A/T snv 0.700 0
dbSNP: rs1555050165
rs1555050165
3 0.925 0.200 11 105926814 missense variant A/G snv 0.700 0
dbSNP: rs1555050171
rs1555050171
2 0.925 0.200 11 105926821 missense variant C/G snv 0.700 0
dbSNP: rs1555050174
rs1555050174
2 0.925 0.200 11 105926824 missense variant C/T snv 0.700 0
dbSNP: rs765556214
rs765556214
1 1.000 0.200 11 105933765 missense variant G/A;C snv 1.6E-05 4.9E-05 0.700 0
dbSNP: rs121434613
rs121434613
4 0.882 0.240 X 111194402 missense variant C/A snv 0.010 1.000 1 2003 2003
dbSNP: rs121434614
rs121434614
3 0.925 0.200 X 111196570 missense variant G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs869025287
rs869025287
2 0.925 0.200 12 115969040 frameshift variant GCCAATAT/- delins 0.700 0
dbSNP: rs1335072648
rs1335072648
2 1.000 0.200 8 116854423 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs4846049
rs4846049
11 0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs1476413
rs1476413
10 0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2008 2008
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs122468181
rs122468181
3 0.925 0.200 X 119837771 stop gained G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs140032597
rs140032597
3 0.925 0.200 X 119837923 missense variant C/T snv 6.6E-05 1.1E-04 0.010 1.000 1 2010 2010
dbSNP: rs762578331
rs762578331
3 0.925 0.200 X 119837939 missense variant G/A;T snv 8.2E-05; 5.5E-06 0.010 1.000 1 2010 2010
dbSNP: rs1282813621
rs1282813621
3 0.925 0.200 X 119837956 missense variant C/T snv 4.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs878853152
rs878853152
1 1.000 0.200 X 120547154 frameshift variant TG/- delins 0.700 0
dbSNP: rs141228574
rs141228574
2 1.000 0.200 9 128332233 missense variant G/C snv 6.3E-03 5.5E-03 0.010 1.000 1 2017 2017
dbSNP: rs1427146168
rs1427146168
2 1.000 0.200 9 131140671 stop gained C/T snv 0.010 1.000 1 2013 2013