Source: CLINVAR

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: 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: 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: 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: 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: 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: 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: rs1064797104
rs1064797104
1.000 0.080 X 154031053 stop gained -/TCAGCTTTTCGCTTCCTGCCGGGGC delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0
dbSNP: rs193922679
rs193922679
1.000 0.080 X 154031254 stop gained T/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0
dbSNP: rs267608445
rs267608445
1.000 0.080 X 154032310 stop gained C/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0
dbSNP: rs267608469
rs267608469
0.925 0.080 X 154031446 stop gained G/A;C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0
dbSNP: rs267608475
rs267608475
0.925 0.120 X 154031415 stop gained A/G;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.710 1.000 0 1999 1999
dbSNP: rs267608495
rs267608495
1.000 0.080 X 154031290 stop gained T/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0
dbSNP: rs267608507
rs267608507
1.000 0.080 X 154031216 stop gained TG/CT mnv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0
dbSNP: rs267608569
rs267608569
1.000 0.080 X 154030710 stop gained G/C;T snv 1.7E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0
dbSNP: rs56268439
rs56268439
1.000 0.080 X 154030639 stop gained C/A;T snv 5.8E-06; 5.8E-06; 2.2E-03
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0
dbSNP: rs61748399
rs61748399
1.000 0.080 X 154031398 stop gained T/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0
dbSNP: rs61748425
rs61748425
1.000 0.080 X 154031320 stop gained G/A;C snv 5.5E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0
dbSNP: rs61749717
rs61749717
1.000 0.080 X 154031236 stop gained T/A;G snv 5.5E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0
dbSNP: rs61749718
rs61749718
1.000 0.080 X 154031230 stop gained T/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0
dbSNP: rs61749724
rs61749724
1.000 0.080 X 154031217 stop gained G/A;C snv 5.4E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0
dbSNP: rs61749726
rs61749726
1.000 0.080 X 154031215 stop gained C/A;G snv 5.4E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0
dbSNP: rs61749729
rs61749729
1.000 0.080 X 154031206 stop gained G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0
dbSNP: rs61749739
rs61749739
1.000 0.080 X 154031142 stop gained G/A;T snv 1.6E-04
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.700 0