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: rs201620629
rs201620629
TBX6
1 1.000 16 30086847 stop gained G/A;C snv 8.1E-06; 4.1E-06 0.700 1.000 2 2013 2015
dbSNP: rs758051786
rs758051786
TBX6
1 1.000 16 30088757 frameshift variant C/-;CC delins 0.700 1.000 2 2013 2015
dbSNP: rs786204039
rs786204039
TBX6
1 1.000 16 30086285 frameshift variant -/A delins 0.700 1.000 2 2013 2015
dbSNP: rs786204040
rs786204040
TBX6
1 1.000 16 30090844 frameshift variant -/G delins 0.700 1.000 2 2013 2015
dbSNP: rs879253776
rs879253776
TBX6
1 1.000 16 30086366 frameshift variant -/G delins 0.700 1.000 2 2013 2015
dbSNP: rs879253857
rs879253857
TBX6
1 1.000 16 30086356 frameshift variant CT/- del 0.700 1.000 2 2013 2015
dbSNP: rs113994160
rs113994160
HES7
2 0.925 0.080 17 8123096 missense variant G/A snv 0.700 0
dbSNP: rs1567342899
rs1567342899
TBX6
1 1.000 16 30090889 frameshift variant -/C delins 0.700 0
dbSNP: rs202193096
rs202193096
TBX6
2 0.925 0.040 16 30089130 missense variant G/A snv 2.2E-04 1.0E-04 0.700 0
dbSNP: rs387906978
rs387906978
HES7
2 0.925 17 8121693 missense variant C/A snv 2.8E-05 0.700 0
dbSNP: rs387906979
rs387906979
HES7
2 0.925 17 8122397 missense variant T/C snv 0.700 0
dbSNP: rs398122970
rs398122970
HES7
1 1.000 17 8121854 frameshift variant -/GTTTGGGGCG delins 0.700 0
dbSNP: rs587777113
rs587777113
TBX6
1 1.000 16 30086225 stop lost T/A snv 0.700 0