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: rs28934906
rs28934906
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.900 1.000 42 1999 2017
dbSNP: rs61748421
rs61748421
0.807 0.200 X 154031326 stop gained G/A;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.740 1.000 40 1999 2014
dbSNP: rs28935468
rs28935468
0.732 0.240 X 154030912 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.870 1.000 22 1999 2017
dbSNP: rs61750240
rs61750240
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.760 1.000 21 2000 2016
dbSNP: rs61751362
rs61751362
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.730 1.000 17 1975 2013
dbSNP: rs28934904
rs28934904
0.776 0.200 X 154031431 missense variant G/A;C;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.880 1.000 16 1999 2017
dbSNP: rs28934907
rs28934907
0.732 0.320 X 154032268 missense variant G/A;C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.840 1.000 10 1999 2017
dbSNP: rs61748408
rs61748408
0.925 0.080 X 154031360 missense variant G/A;C;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 1.000 10 2000 2012
dbSNP: rs61748390
rs61748390
0.925 0.080 X 154031427 missense variant G/A;C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.810 1.000 9 1988 2017
dbSNP: rs61749721
rs61749721
0.732 0.200 X 154031065 stop gained G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.720 1.000 8 1999 2010
dbSNP: rs61748404
rs61748404
0.882 0.120 X 154031373 missense variant G/C;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.810 1.000 7 1999 2017
dbSNP: rs28934908
rs28934908
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.710 1.000 6 2002 2016
dbSNP: rs61748396
rs61748396
0.882 0.080 X 154031405 stop gained G/C;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 1.000 5 2001 2007
dbSNP: rs61749723
rs61749723
0.925 0.080 X 154030923 missense variant G/A;C;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.800 1.000 5 1999 2017
dbSNP: rs61751443
rs61751443
0.925 0.080 X 154030911 missense variant C/A;G;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.800 1.000 5 1999 2017
dbSNP: rs267608465
rs267608465
1.000 0.080 X 154031453 splice region variant G/A;C;T snv 1.7E-05; 5.5E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 1.000 4 2005 2015
dbSNP: rs267608438
rs267608438
1.000 0.080 X 154032381 stop gained G/A;C snv 5.5E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 1.000 2 2005 2013
dbSNP: rs61751444
rs61751444
0.882 0.080 X 154030903 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.720 1.000 2 2007 2016
dbSNP: rs267608525
rs267608525
1.000 0.080 X 154031044 stop gained G/A;C snv 1.1E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 1.000 1 2001 2001
dbSNP: rs104894864
rs104894864
1.000 0.080 X 154030465 stop gained C/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0
dbSNP: rs1057518718
rs1057518718
1.000 0.080 X 154032252 missense variant C/T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0
dbSNP: rs1557136818
rs1557136818
0.925 0.120 X 154031259 missense variant C/T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0
dbSNP: rs1557137042
rs1557137042
1.000 0.080 X 154031377 missense variant C/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0
dbSNP: rs179363900
rs179363900
0.807 0.080 X 154031374 missense variant G/C snv 5.5E-06 1.9E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.710 1.000 0 2009 2009
dbSNP: rs179363901
rs179363901
0.882 0.120 X 154097661 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0