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: rs878853151
rs878853151
1 1.000 0.200 X 53211601 frameshift variant -/A delins 0.700 0
dbSNP: rs1555910048
rs1555910048
1 1.000 0.200 22 50720739 frameshift variant -/CCGTGGGCAGCCCCGG delins 0.700 0
dbSNP: rs1569146649
rs1569146649
2 1.000 0.200 22 42211545 frameshift variant -/T delins 0.700 0
dbSNP: rs1562928193
rs1562928193
1 1.000 0.200 7 105102045 frameshift variant -/TA delins 0.700 0
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: rs1404008939
rs1404008939
4 0.925 0.200 7 87504324 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs225012
rs225012
2 1.000 0.200 14 80204392 intron variant A/C;G snv 0.51 0.010 1.000 1 2004 2004
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: rs121918524
rs121918524
6 0.827 0.200 X 54011232 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs749457448
rs749457448
2 1.000 0.200 X 70452622 start lost A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs1555050165
rs1555050165
3 0.925 0.200 11 105926814 missense variant A/G snv 0.700 0
dbSNP: rs132630328
rs132630328
GK
3 0.925 0.200 X 30720721 missense variant A/G;T snv 5.4E-06 0.010 1.000 1 1996 1996
dbSNP: rs1555050158
rs1555050158
2 0.925 0.200 11 105926808 missense variant A/T snv 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: 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: rs185645212
rs185645212
6 0.851 0.240 15 89323504 missense variant C/A;T snv 8.0E-06; 9.7E-04 0.010 1.000 1 2010 2010
dbSNP: rs45517305
rs45517305
5 0.851 0.240 16 2081646 stop gained C/A;T snv 0.010 1.000 1 1998 1998
dbSNP: rs113994097
rs113994097
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2010 2010
dbSNP: rs122460151
rs122460151
5 0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 0.010 1.000 1 1999 1999
dbSNP: rs1555050171
rs1555050171
2 0.925 0.200 11 105926821 missense variant C/G snv 0.700 0
dbSNP: rs1555661648
rs1555661648
6 0.882 0.240 18 26862297 missense variant C/G snv 0.700 0
dbSNP: rs878853141
rs878853141
1 1.000 0.200 X 53199068 missense variant C/G snv 0.700 0
dbSNP: rs878853148
rs878853148
1 1.000 0.200 X 54002150 splice region variant C/G snv 0.700 0
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: rs3740066
rs3740066
20 0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 0.010 1.000 1 2008 2008