Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs756851968
rs756851968
CHD7
1 1.000 0.080 8 60741555 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 13 2004 2015
dbSNP: rs587783431
rs587783431
CHD7
1 1.000 0.080 8 60741619 frameshift variant CAAA/- delins 0.700 0
dbSNP: rs767819417
rs767819417
CHD7
1 1.000 0.080 8 60741647 missense variant A/G snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs1563559321
rs1563559321
CHD7
1 1.000 0.080 8 60741714 frameshift variant T/- del 0.700 1.000 1 2012 2012
dbSNP: rs779024959
rs779024959
CHD7
1 1.000 0.080 8 60741727 missense variant G/A;C snv 4.8E-05; 3.2E-05 0.700 1.000 15 2004 2015
dbSNP: rs794727293
rs794727293
CHD7
1 1.000 0.080 8 60741901 stop gained C/T snv 4.1E-06 0.700 1.000 6 2004 2012
dbSNP: rs1554581198
rs1554581198
CHD7
1 1.000 0.080 8 60741910 frameshift variant T/- del 0.700 0
dbSNP: rs886040978
rs886040978
CHD7
1 1.000 0.080 8 60741928 stop gained C/T snv 0.700 0
dbSNP: rs797045468
rs797045468
CHD7
1 1.000 0.080 8 60741956 frameshift variant -/G delins 0.700 0
dbSNP: rs1554581277
rs1554581277
CHD7
1 1.000 0.080 8 60742036 stop gained C/T snv 0.700 0
dbSNP: rs200898742
rs200898742
CHD7
1 1.000 0.080 8 60742144 missense variant G/A;C snv 3.4E-04; 4.0E-06 0.700 1.000 13 2004 2015
dbSNP: rs1563560493
rs1563560493
CHD7
1 1.000 0.080 8 60742147 frameshift variant C/- delins 0.700 1.000 1 2012 2012
dbSNP: rs1554581399
rs1554581399
CHD7
1 1.000 0.080 8 60742294 stop gained C/A;T snv 0.700 0
dbSNP: rs1436515577
rs1436515577
CHD7
1 1.000 0.080 8 60742357 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1060503184
rs1060503184
CHD7
1 1.000 0.080 8 60742489 frameshift variant T/- delins 0.700 0
dbSNP: rs886040980
rs886040980
CHD7
1 1.000 0.080 8 60742504 frameshift variant G/- delins 0.700 0
dbSNP: rs587783428
rs587783428
CHD7
1 1.000 0.080 8 60742678 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1554581646
rs1554581646
CHD7
1 1.000 0.080 8 60742723 frameshift variant C/- delins 0.700 0
dbSNP: rs1554581657
rs1554581657
CHD7
1 1.000 0.080 8 60742744 stop gained C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs772369092
rs772369092
CHD7
1 1.000 0.080 8 60742747 missense variant C/G;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs1554581674
rs1554581674
CHD7
1 1.000 0.080 8 60742772 frameshift variant AG/- delins 0.700 0
dbSNP: rs587783429
rs587783429
CHD7
1 1.000 0.080 8 60742912 stop gained C/T snv 0.700 0
dbSNP: rs786204200
rs786204200
CHD7
1 1.000 0.080 8 60742919 frameshift variant -/A delins 0.700 0
dbSNP: rs863224517
rs863224517
CHD7
1 1.000 0.080 8 60742936 frameshift variant C/- delins 0.700 0
dbSNP: rs1057519423
rs1057519423
CHD7
1 1.000 0.080 8 60742984 stop gained C/T snv 0.700 0