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: rs104894376
rs104894376
TBX3
1 1.000 0.080 12 114677644 stop gained T/A snv 0.700 0
dbSNP: rs1060505020
rs1060505020
TBX3
1 1.000 0.080 12 114674452 stop gained G/A snv 0.700 0
dbSNP: rs1565858163
rs1565858163
TBX3
1 1.000 0.080 12 114672091 frameshift variant -/GC delins 0.700 0
dbSNP: rs397514484
rs397514484
TBX3
1 1.000 0.080 12 114676361 stop gained G/A snv 0.700 0