Gene: CHD7 ×
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: rs121434338
rs121434338
CHD7
2 0.925 0.080 8 60822627 missense variant A/G snv 0.800 1.000 19 2004 2015
dbSNP: rs121434341
rs121434341
CHD7
10 0.807 0.360 8 60855993 missense variant C/A;T snv 0.810 1.000 16 2004 2015
dbSNP: rs121434339
rs121434339
CHD7
1 1.000 0.080 8 60830569 missense variant T/G snv 0.800 1.000 15 2004 2015
dbSNP: rs121434343
rs121434343
CHD7
2 0.925 0.080 8 60853047 missense variant G/A snv 0.800 1.000 15 2004 2015
dbSNP: rs587783451
rs587783451
CHD7
1 1.000 0.080 8 60853012 missense variant A/G snv 0.800 1.000 15 2004 2015
dbSNP: rs886040993
rs886040993
CHD7
1 1.000 0.080 8 60842051 missense variant G/A snv 0.700 1.000 15 2004 2015
dbSNP: rs1165711448
rs1165711448
CHD7
1 1.000 0.080 8 60821842 missense variant C/T snv 0.700 1.000 13 2004 2015
dbSNP: rs1197494895
rs1197494895
CHD7
1 1.000 0.080 8 60852919 missense variant G/A snv 7.0E-06 0.700 1.000 13 2004 2015
dbSNP: rs1554602465
rs1554602465
CHD7
4 0.882 0.080 8 60845063 missense variant G/A snv 0.700 1.000 13 2004 2015
dbSNP: rs864309609
rs864309609
CHD7
1 1.000 0.080 8 60836175 missense variant T/C snv 0.800 1.000 13 2004 2015
dbSNP: rs886040988
rs886040988
CHD7
3 1.000 0.080 8 60830422 missense variant T/A snv 0.800 1.000 13 2004 2015
dbSNP: rs587783454
rs587783454
CHD7
1 1.000 0.080 8 60854437 stop gained C/T snv 0.700 1.000 4 2006 2012
dbSNP: rs794727423
rs794727423
CHD7
2 0.925 0.080 8 60850476 intron variant G/A snv 0.700 1.000 4 2006 2016
dbSNP: rs587783458
rs587783458
CHD7
1 1.000 0.080 8 60862322 stop gained C/T snv 0.700 1.000 3 2006 2016
dbSNP: rs886040995
rs886040995
CHD7
2 1.000 0.080 8 60852682 stop gained C/T snv 0.700 1.000 3 2006 2016
dbSNP: rs1554606274
rs1554606274
CHD7
1 1.000 0.080 8 60862337 splice donor variant G/T snv 0.700 1.000 2 2012 2014
dbSNP: rs794727555
rs794727555
CHD7
1 1.000 0.080 8 60853033 missense variant G/A snv 0.700 1.000 2 2011 2013
dbSNP: rs864622523
rs864622523
CHD7
1 1.000 0.080 8 60828661 splice acceptor variant A/C snv 0.700 1.000 2 2012 2014
dbSNP: rs886040991
rs886040991
CHD7
2 0.925 0.080 8 60838115 stop gained C/T snv 0.700 1.000 2 2006 2012
dbSNP: rs1060503188
rs1060503188
CHD7
1 1.000 0.080 8 60856592 stop gained C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1554581657
rs1554581657
CHD7
1 1.000 0.080 8 60742744 stop gained C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1554588712
rs1554588712
CHD7
1 1.000 0.080 8 60781253 frameshift variant A/- delins 0.700 1.000 1 2010 2010
dbSNP: rs1563559321
rs1563559321
CHD7
1 1.000 0.080 8 60741714 frameshift variant T/- del 0.700 1.000 1 2012 2012
dbSNP: rs1563560493
rs1563560493
CHD7
1 1.000 0.080 8 60742147 frameshift variant C/- delins 0.700 1.000 1 2012 2012
dbSNP: rs1563674316
rs1563674316
CHD7
1 1.000 0.080 8 60865485 frameshift variant ATGAAGA/- delins 0.700 1.000 1 2009 2009