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: rs1021645395
rs1021645395
CHD7
1 1.000 0.080 8 60850497 stop gained T/C;G snv 3.5E-05 0.700 0
dbSNP: rs1057519423
rs1057519423
CHD7
1 1.000 0.080 8 60742984 stop gained C/T snv 0.700 0
dbSNP: rs1057521077
rs1057521077
CHD7
1 1.000 0.080 8 60822604 missense variant T/C snv 0.700 0
dbSNP: rs1060499560
rs1060499560
CHD7
1 1.000 0.080 8 60853016 frameshift variant C/- delins 0.700 0
dbSNP: rs1060499937
rs1060499937
CHD7
1 1.000 0.080 8 60844998 frameshift variant G/- del 0.700 0
dbSNP: rs1060503180
rs1060503180
CHD7
1 1.000 0.080 8 60848514 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1060503181
rs1060503181
CHD7
1 1.000 0.080 8 60816455 frameshift variant T/- delins 0.700 0
dbSNP: rs1060503182
rs1060503182
CHD7
1 1.000 0.080 8 60794985 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1060503183
rs1060503183
CHD7
1 1.000 0.080 8 60823837 splice region variant T/C;G snv 1.2E-05 0.700 0
dbSNP: rs1060503184
rs1060503184
CHD7
1 1.000 0.080 8 60742489 frameshift variant T/- delins 0.700 0
dbSNP: rs1060503185
rs1060503185
CHD7
1 1.000 0.080 8 60852886 frameshift variant CT/- delins 0.700 0
dbSNP: rs1060503187
rs1060503187
CHD7
1 1.000 0.080 8 60822638 missense variant G/C snv 0.700 0
dbSNP: rs1060503189
rs1060503189
CHD7
1 1.000 0.080 8 60816501 splice donor variant G/- delins 0.700 0
dbSNP: rs1064793083
rs1064793083
CHD7
4 0.882 0.080 8 60828682 missense variant C/T snv 0.700 0
dbSNP: rs1064793346
rs1064793346
CHD7
1 1.000 0.080 8 60862244 stop gained C/T snv 0.700 0
dbSNP: rs1131690787
rs1131690787
CHD7
1 1.000 0.080 8 60850480 intron variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1131691420
rs1131691420
CHD7
1 1.000 0.080 8 60852839 frameshift variant CCTCTCC/- del 0.700 0
dbSNP: rs1131692153
rs1131692153
CHD7
1 1.000 0.080 8 60850491 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1131692325
rs1131692325
CHD7
1 1.000 0.080 8 60852059 stop gained C/G snv 0.700 0
dbSNP: rs121434340
rs121434340
CHD7
1 1.000 0.080 8 60850506 stop gained C/G snv 0.700 0
dbSNP: rs121434342
rs121434342
CHD7
1 1.000 0.080 8 60836105 stop gained G/T snv 0.700 0
dbSNP: rs121434344
rs121434344
CHD7
3 0.882 0.080 8 60816389 missense variant C/T snv 0.700 0
dbSNP: rs1320897198
rs1320897198
CHD7
1 1.000 0.080 8 60856562 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1360515765
rs1360515765
CHD7
1 1.000 0.080 8 60852673 stop gained C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1373315351
rs1373315351
CHD7
1 1.000 0.080 8 60865043 missense variant C/T snv 0.700 0