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: rs386834116
rs386834116
1.000 0.320 8 99819403 intron variant A/G snv 4.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 0
dbSNP: rs386834080
rs386834080
1.000 0.320 8 99442617 stop gained C/T snv 4.0E-05 1.4E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 4 2007 2010
dbSNP: rs386834113
rs386834113
1.000 0.320 8 99818529 stop gained C/T snv 1.6E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 4 2009 2014
dbSNP: rs120074150
rs120074150
1.000 0.320 8 99720973 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 3 2003 2015
dbSNP: rs180177356
rs180177356
1.000 0.320 8 99156609 stop gained C/A;T snv 1.2E-05; 8.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 3 2003 2010
dbSNP: rs386834061
rs386834061
0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 3 2004 2015
dbSNP: rs120074151
rs120074151
1.000 0.320 8 99511275 stop gained G/T snv 8.0E-06 3.5E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 2 2004 2007
dbSNP: rs144539572
rs144539572
1.000 0.320 8 99102976 stop gained C/T snv 2.0E-05 7.7E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 2 2010 2013
dbSNP: rs180177354
rs180177354
1.000 0.320 8 99135674 stop gained C/T snv 1.2E-05 2.1E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 2 2004 2006
dbSNP: rs180177360
rs180177360
1.000 0.320 8 99556552 stop gained G/A;C;T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 2 2006 2011
dbSNP: rs386834078
rs386834078
1.000 0.320 8 99384272 stop gained G/A snv 2.1E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 2 2004 2013
dbSNP: rs386834086
rs386834086
1.000 0.320 8 99511215 stop gained C/T snv 2.4E-05 1.4E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 2 2009 2015
dbSNP: rs1057516633
rs1057516633
1.000 0.320 8 99642105 stop gained C/T snv 8.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 1 2010 2010
dbSNP: rs120074154
rs120074154
1.000 0.320 8 99854202 stop gained C/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 1 2004 2004
dbSNP: rs1554625617
rs1554625617
1.000 0.320 8 99121245 stop gained C/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 1 2013 2013
dbSNP: rs180177365
rs180177365
1.000 0.320 8 99642435 stop gained C/T snv 1.6E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 1 2006 2006
dbSNP: rs386834057
rs386834057
1.000 0.320 8 99859307 stop gained G/A snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 1 2009 2009
dbSNP: rs386834099
rs386834099
1.000 0.320 8 99642342 stop gained C/T snv 7.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 1 2004 2004
dbSNP: rs753770252
rs753770252
1.000 0.320 8 99832510 stop gained C/G;T snv 4.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 1 2015 2015
dbSNP: rs765998879
rs765998879
1.000 0.320 8 99507850 stop gained T/A snv 1.2E-05 7.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 1 2009 2009
dbSNP: rs777593389
rs777593389
1.000 0.320 8 99156693 stop gained C/T snv 4.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 1 2016 2016
dbSNP: rs1057516287
rs1057516287
1.000 0.320 8 99699821 stop gained C/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 0
dbSNP: rs1057516331
rs1057516331
1.000 0.320 8 99699777 stop gained G/A snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 0
dbSNP: rs1057516422
rs1057516422
1.000 0.320 8 99096396 stop gained C/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 0
dbSNP: rs1057516437
rs1057516437
1.000 0.320 8 99853495 stop gained T/G snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 0