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: rs120074149
rs120074149
1.000 0.320 8 99717219 missense variant T/G snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.800 1.000 0 2003 2009
dbSNP: rs120074153
rs120074153
1.000 0.320 8 99784394 missense variant G/A snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.800 1.000 0 2003 2009
dbSNP: rs120074155
rs120074155
1.000 0.320 8 99818473 missense variant T/C snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.800 1.000 0 2003 2009
dbSNP: rs28940272
rs28940272
1.000 0.320 8 99820031 missense variant A/G snv 3.2E-03 3.9E-03
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.800 1.000 0 2003 2009
dbSNP: rs386834104
rs386834104
1.000 0.320 8 99720944 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.800 1.000 0 2003 2009
dbSNP: rs120074152
rs120074152
0.925 0.320 8 99384294 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 12 1998 2015
dbSNP: rs120074152
rs120074152
0.925 0.320 8 99384294 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 12 1998 2015
dbSNP: rs1554884733
rs1554884733
1.000 8 99641974 frameshift variant -/GTCC delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 12 1998 2015
dbSNP: rs1554884733
rs1554884733
1.000 8 99641974 frameshift variant -/GTCC delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 12 1998 2015
dbSNP: rs1554884733
rs1554884733
1.000 8 99641974 frameshift variant -/GTCC delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 12 1998 2015
dbSNP: rs886041185
rs886041185
0.925 0.320 8 99835295 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 12 1998 2015
dbSNP: rs886041185
rs886041185
0.925 0.320 8 99835295 frameshift variant -/A delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.700 1.000 12 1998 2015
dbSNP: rs886041185
rs886041185
0.925 0.320 8 99835295 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 12 1998 2015
dbSNP: rs180177366
rs180177366
1.000 0.320 8 99717374 splice donor variant G/A;T snv 4.0E-05 7.0E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 6 2004 2015
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: rs386834119
rs386834119
1.000 0.320 8 99832368 splice acceptor variant G/A;C;T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 4 2004 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: rs141703746
rs141703746
1.000 0.320 8 99275256 splice donor variant T/C;G snv 8.0E-06; 1.2E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 3 2004 2010
dbSNP: rs1554566596
rs1554566596
1.000 0.320 8 99818712 splice acceptor variant G/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 3 2004 2010
dbSNP: rs1554588353
rs1554588353
1.000 0.320 8 99871446 splice acceptor variant A/G snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 3 2004 2010
dbSNP: rs1563908020
rs1563908020
1.000 0.320 8 99766972 splice donor variant T/C snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
0.700 1.000 3 2004 2010
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: rs180177363
rs180177363
1.000 0.320 8 99641938 frameshift variant -/AG delins
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