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: rs1064793083
rs1064793083
CHD7
4 0.882 0.080 8 60828682 missense variant C/T snv 0.700 1.000 20 1999 2016
dbSNP: rs1554599036
rs1554599036
CHD7
4 1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 0.700 1.000 20 1999 2016
dbSNP: rs1554602465
rs1554602465
CHD7
4 0.882 0.080 8 60845063 missense variant G/A snv 0.700 1.000 20 1999 2016
dbSNP: rs1554603550
rs1554603550
CHD7
1 8 60850514 missense variant T/G snv 0.700 1.000 20 1999 2016
dbSNP: rs1554604059
rs1554604059
CHD7
1 8 60852866 frameshift variant AG/- delins 0.700 1.000 20 1999 2016
dbSNP: rs1554605030
rs1554605030
CHD7
1 8 60856559 frameshift variant -/T delins 0.700 1.000 20 1999 2016
dbSNP: rs875989879
rs875989879
CHD7
3 0.925 0.080 8 60853017 stop gained C/T snv 0.700 1.000 20 1999 2016
dbSNP: rs886040988
rs886040988
CHD7
3 1.000 0.080 8 60830422 missense variant T/A snv 0.700 1.000 20 1999 2016
dbSNP: rs886041166
rs886041166
CHD7
3 1.000 8 60742366 stop gained C/T snv 0.700 1.000 20 1999 2016
dbSNP: rs797044919
rs797044919
CHD7
1 8 60845364 frameshift variant -/C delins 0.700 1.000 1 2015 2015