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: rs1553510301
rs1553510301
TBR1
3 0.925 0.040 2 161417794 missense variant T/C snv 0.700 1.000 8 2003 2018
dbSNP: rs1173646549
rs1173646549
TBR1
1 1.000 2 161423431 missense variant A/G snv 0.700 0
dbSNP: rs147026901
rs147026901
TBR1
1 1.000 2 161418988 missense variant G/A snv 1.6E-04 1.7E-04 0.700 0
dbSNP: rs1553510677
rs1553510677
TBR1
1 1.000 2 161420232 stop gained A/G;T snv 0.700 0
dbSNP: rs1559060428
rs1559060428
TBR1
1 1.000 2 161417796 missense variant G/T snv 0.700 0
dbSNP: rs771354583
rs771354583
TBR1
1 1.000 2 161416942 stop gained C/G;T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs869312704
rs869312704
TBR1
10 0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 0.700 0