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: rs1479675678
rs1479675678
DOCK7
1.000 1 62513588 stop gained G/A;C snv 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 2 2006 2014
dbSNP: rs1553163123
rs1553163123
DOCK7
1.000 1 62528151 splice region variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 2 2006 2014
dbSNP: rs1057520100
rs1057520100
DOCK7
1.000 1 62625399 stop gained G/A;T snv 4.3E-06; 4.3E-06
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 0
dbSNP: rs1553156203
rs1553156203
DOCK7
1.000 1 62496479 frameshift variant T/- delins
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 0
dbSNP: rs1557855477
rs1557855477
DOCK7
1.000 1 62647726 frameshift variant A/- delins
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 0
dbSNP: rs1557864817
rs1557864817
DOCK7
1.000 1 62654109 frameshift variant AATGA/T delins
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 0
dbSNP: rs200785483
rs200785483
ANGPTL3 ; DOCK7
1.000 0.080 1 62597951 stop gained G/A;T snv 1.5E-05
CUI: C1857970
Disease: Hypobetalipoproteinemia, Familial, 2
Hypobetalipoproteinemia, Familial, 2 		0.700 0
dbSNP: rs267606655
rs267606655
ANGPTL3 ; DOCK7
1.000 0.080 1 62597616 stop gained CC/GA mnv
CUI: C1857970
Disease: Hypobetalipoproteinemia, Familial, 2
Hypobetalipoproteinemia, Familial, 2 		0.700 0
dbSNP: rs398122985
rs398122985
ANGPTL3 ; DOCK7
1.000 0.080 1 62604236 splice donor variant G/T snv
CUI: C1857970
Disease: Hypobetalipoproteinemia, Familial, 2
Hypobetalipoproteinemia, Familial, 2 		0.700 0
dbSNP: rs398122986
rs398122986
ANGPTL3 ; DOCK7
1.000 0.080 1 62597620 frameshift variant A/- delins
CUI: C1857970
Disease: Hypobetalipoproteinemia, Familial, 2
Hypobetalipoproteinemia, Familial, 2 		0.700 0
dbSNP: rs398122987
rs398122987
ANGPTL3 ; DOCK7
1.000 0.080 1 62597997 frameshift variant AACT/- delins
CUI: C1857970
Disease: Hypobetalipoproteinemia, Familial, 2
Hypobetalipoproteinemia, Familial, 2 		0.700 0
dbSNP: rs398122988
rs398122988
ANGPTL3 ; DOCK7
1.000 0.080 1 62597922 frameshift variant CTCAA/- delins
CUI: C1857970
Disease: Hypobetalipoproteinemia, Familial, 2
Hypobetalipoproteinemia, Familial, 2 		0.700 0
dbSNP: rs398122989
rs398122989
ANGPTL3 ; DOCK7
1.000 0.080 1 62602332 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C1857970
Disease: Hypobetalipoproteinemia, Familial, 2
Hypobetalipoproteinemia, Familial, 2 		0.700 0
dbSNP: rs587777484
rs587777484
DOCK7
1.000 1 62529349 stop gained G/A snv
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 0
dbSNP: rs587777485
rs587777485
DOCK7
1.000 1 62457653 stop gained C/A snv 7.0E-06
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 0
dbSNP: rs886037665
rs886037665
DOCK7
1.000 1 62555911 frameshift variant T/- del
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 0
dbSNP: rs886037666
rs886037666
DOCK7
1.000 1 62634825 stop gained G/C snv
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 0