Gene: CHD7 ×
Source: INFERRED ×
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: rs121434345
rs121434345
CHD7
1 1.000 8 60741596 missense variant A/G snv 8.0E-06 0.800 1.000 0 2008 2014
dbSNP: rs398124321
rs398124321
CHD7
2 0.925 0.080 8 60850486 splice region variant G/A;T snv 4.0E-06 0.700 1.000 3 2004 2012
dbSNP: rs794727423
rs794727423
CHD7
2 0.925 0.080 8 60850476 intron variant G/A snv 0.700 1.000 2 2006 2016
dbSNP: rs1064793083
rs1064793083
CHD7
4 0.882 0.080 8 60828682 missense variant C/T snv 0.700 0
dbSNP: rs1131692039
rs1131692039
CHD7
1 1.000 8 60849151 missense variant C/A snv 0.700 0
dbSNP: rs121434338
rs121434338
CHD7
2 0.925 0.080 8 60822627 missense variant A/G snv 0.700 0
dbSNP: rs1563664506
rs1563664506
CHD7
2 0.925 0.080 8 60856161 frameshift variant A/- del 0.700 0
dbSNP: rs200220845
rs200220845
CHD7
2 0.925 0.080 8 60822027 stop gained C/A;T snv 1.2E-05 0.700 0
dbSNP: rs202143667
rs202143667
CHD7
1 1.000 8 60816506 splice region variant G/A snv 1.4E-05 7.7E-05 0.700 0
dbSNP: rs387906271
rs387906271
CHD7
11 0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0
dbSNP: rs587783450
rs587783450
CHD7
2 0.925 0.080 8 60852882 stop gained C/T snv 0.700 0
dbSNP: rs886039881
rs886039881
CHD7
1 1.000 8 60821823 missense variant C/T snv 0.700 0
dbSNP: rs886040962
rs886040962
CHD7
1 1.000 8 60865395 frameshift variant CT/- delins 0.700 0
dbSNP: rs886040985
rs886040985
CHD7
2 0.925 0.080 8 60823843 stop gained C/T snv 0.700 0